The 12th
Biennial Scientific Meeting of the
Asia Pacific Paediatric Endocrine Society 2022

October 5~8, 2022 Conrad Seoul, KOREA

Invited Speakers

Home   PROGRAM  Invited Speakers
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  • Dong-Kyu Jin, South Korea
Affiliation
Sungkyunkwan University Samsung Medical Center
Session
[Plenary 1: Growth] Oct. 6, 2022 (Thu.) 09:00-09:45 - Speaker
Topic
Long Acting Growth Hormone: Will It Replace Daily Form of Growth Hormone Soon?
Biography
Sub-speciality :
Pediatric Endocrinology and Genetics

Current Appointment:
Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea
President of Association for Research of MPS and Rare Diseases

Education:

Institute Attended/Enrolled Period Period
Seoul National University M.D 1977-1984
Seoul National University M.S 1986-1988
Seoul National University Ph.D 1990-1993

Career:
President, Association for Research of MPS and Rare Diseases 2015-Present
President, Korean society of Metabolic and Inherited disorder 2014-2020.06
Director of Center for Children and Adolescent, Samsung Medical Center 2013.08-2017.03
Director, Clinical Research Center, Samsung Medical Research Institute 1994-2013
Professor.Dept. Pediatrics, Sungkyunkwan University 1997- Present
Staff. Dept. Pediatrics Samsung Medical Center 1994- Present
Research fellow, Dept.Nephorology, Minesota University 1993-1994
Research fellow, Dept.Immunology, National Children’s Hospital 1991-1993
Research Center, Tokyo, Japan
Clinical fellow, Dept.Seoul National University 1989-1991
Resident, Dept. Pediatrics Seoul National University Hospital 1985-1988
Intern, Dept. Pediatrics Seoul National University Hospital 1984-1985

Publication List

Endocrine and Metabolic Illnesses in Young Adults with Prader–Willi Syndrome.
Noh, E.-S.; Kim, M.-S.; Kim, C.; Jeon, K.; Kim, S.; Cho, S.Y.; Jin, D.-K.
J. Pers. Med. 2022, 12, 858. https://doi.org/10.3390/jpm12060858

Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
M.-S.; Yang, A.; Noh, E.-s.; Kim, C.; Bae, G.Y.; Lim, H.H.; Park, H.-D.; Cho, S.Y.; Jin, D.-K.
J. Pers. Med. 2022, 12, 665. https://doi.org/10.3390/jpm12050665

Development and Validation of Pediatric-Youth Hyperphagia Assessment for Prader-Willi Syndrome.
Cho SY, Kang D, Im M, Yang A, Kim MS, Kim J, Noh ES, Kwon EK, Choi EJ, Han S, Park YA, Kwak MJ, Kim Y, Cho J, Jin DK.
Epidemiol Health. 2022 Jan 10:e2022014.

Late-infantile GM1 gangliosidosis: A case report.
Noh ES, Park HM, Kim MS, Park HD, Cho SY, Jin DK.
Medicine (Baltimore). 2022 Jan 7;101(1):e28435.

Clinical characteristics, treatment outcomes, and occurrence of diabetes mellitus after pancreatic resection of solid pseudopapillary tumor in children and adolescents:
Kim MS, Park H, Lee S, Yoo SY, Cho SY, Lee SK, Jin DK.
A single institution experience with 51 cases. Pancreatology. 2021 Jan 21:S1424-3903(21)00033-8.

Clinical Presentation and Treatment Outcomes of Children and Adolescents With Pheochromocytoma and Paraganglioma in a Single Center in Korea.
Hyojung Park, Min-Sun Kim, Jiwon Lee, Jung-Han Kim, Byong Chang Jeong, Sanghoon Lee, Suk-Koo Lee, Sung Yoon Cho , Dong-Kyu Jin.
Front Endocrinol (Lausanne). 2021. Jan 29;11:610746.

Long-Term Antithyroid Drug Treatment of Graves' Disease in Children and Adolescents: A 20-Year Single-Center Experience.
Ari Song, Su Jin Kim, Min-Sun Kim, Jiyeon Kim, Insung Kim, Ga Young Bae, Eunseop Seo, Young Seok Cho, Joon Young Choi, Sung Yoon Cho, Dong-Kyu Jin.
Front Endocrinol (Lausanne). 2021. Jun 14;12:687834. doi: 10.3389/fendo.2021.687834. eCollection 2021.

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Hyojung Park, Min-Sun Kim, Jiyeon Kim, Ja-Hyun Jang, Jong-Moon Choi , Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin.
Neuro Endocrinol Lett. 2021 Jan;41(6):285-289.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
Bae H, Kim MS, Park H, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK.
Ann Pediatr Endocrinol Metab. 2020 Mar;25(1):46-51.

Clinical, Hormonal, and Neuroradiological Characteristics and Therapeutic Outcomes of Prolactinomas in Children and Adolescents at a Single Center.
Yang A, Cho SY, Park H, Kim MS, Kong DS, Shin HJ, Jin DK.
Front Endocrinol (Lausanne). 2020 Aug 4;11:527

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
Bae GY, Kim MS, Kim JY, Jang JH, Lee SM, Cho SY, Jin DK.
Ann Clin Lab Sci. 2020 Sep;50(5):691-698.

The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
Choi GJ, Kim MS, Park H, Kim JY, Choi JM, Lee SM, Jang JH, Cho SY, Jin DK.
Ann Clin Lab Sci. 2020 Nov;50(6):818-824.

Impact of growth hormone treatment on scoliosis development and progression: analysis of 1128 patients with idiopathic short stature.
Park SJ, Lee KH, Lee CS, Kim KT, Jang JH, Shin DH, Kim MS, Kim J, Cho SY, Jin DK.
J Pediatr Endocrinol Metab. 2020 Nov 13;34(2):243-250

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G.
Clin Dysmorphol. 2019 Jan;28(1):26-29

A case of de novo 18p deletion syndrome with panhypopituitarism.
Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK.
Ann Pediatr Endocrinol Metab. 2019 Mar;24(1):60-63

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A, Kim J, Jang JH, Lee C, Lee JE, Cho SY, Jin DK.
Ann Hum Genet. 2019 May;83(3):160-170.

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK.
Korean J Pediatr. 2019 Jun;62(6):224-234

Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.
Yang A, Choi JH, Sohn YB, Eom Y, Lee J, Yoo HW, Jin DK.
Orphanet J Rare Dis. 2019 Sep 11;14(1):216. doi: 10.1186/s13023-019-1195-1.

Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency.
Yang A, Cho SY, Kwak MJ, Kim SJ, Park SW, Jin DK, Lee JE
Sci Rep. 2019 Nov 7;9(1):16181

Auditory Characteristics in Patients With Mucopolysaccharidosis.
Ahn J, Lee JJ, Park SI, Cho SY, Jin DK, Cho YS, Chung WH, Hong SH, Moon IJ.
Otol Neurotol. 2019 Dec;40(10):e955-e961

Etiological trends in male central precocious puberty.
Lee J, Kim J, Yang A, Cho SY, Jin DK.
Ann Pediatr Endocrinol Metab. 2018 Jun;23(2):75-80

The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
Sohn YB, Ko AR, Seong MR, Lee S, Kim MR, Cho SY, Kim JS, Sakaguchi M, Nakazawa T, Kosuga M, Seo JH, Okuyama T, Jin DK.
J Inherit Metab Dis. 2018 Nov;41(6):1235-1246

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
Jeong HI1, Yang A2, Kim J3, Jang JH4, Cho SY5, Jin DK1.
Ann Clin Lab Sci. 2018 Jul;48(4):522-527.

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P1, Cho SY2, Praticò AD3, Falsaperla R1, Ruggieri M3, Jin DK2.
Medicine (Baltimore). 2018 Sep;97(36):e12124. doi: 10.1097/MD.0000000000012124.

A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse.
Shin SH, Park MH, Byeon JJ, Lee BI, Park Y, Ko AR, Seong MR, Lee S, Kim MR, Seo J, Jung ME, Jin DK, Shin YG.
Pharmaceutics. 2018 Jun 7;10(2). pii: E69. doi: 10.3390/pharmaceutics10020069

Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.
Yang A, Kim J, Cho SY, Jin DK.
Orphanet J Rare Dis. 2017 Aug 30;12(1):146. doi: 10.1186/s13023-017-0702-5.

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK.
Clin Chim Acta. 2017 Aug;471:191-195. doi: 10.1016/j.cca.2017.06.010. Epub 2017 Jun 13.

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
Yang M, Cho SY, Park HD, Choi R, Kim YE, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK.
Orphanet J Rare Dis. 2017 Jan 17;12(1):11. doi: 10.1186/s13023-016-0556-2.

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK.
Ann Pediatr Endocrinol Metab. 2017 Sep;22(3):203-207. doi: 10.6065/apem.2017.22.3.203. Epub 2017 Sep 28.

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK.
BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6.

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.
Cho EK, Kim J, Yang A, Cho SY, Jin DK.
Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):129-132. doi: 10.6065/apem.2017.22.2.129. Epub 2017 Jun 28.

Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phaseIII randomized trial.
Kim J, Suh BK, Ko CW, Lee KH, Shin CH, Hwang JS, Kim HS, Chung WY, Kim CJ, Han HS, Kwon NY, Cho SY, Yoo HW, Jin DK.
J Endocrinol Invest. 2017 Nov 4. doi: 10.1007/s40618-017-0786-8.

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
Park EG, Cho SY, Lee J, Kim J, Cho H, Kim J, Huh R, Ki CS, Kim OH, Jin DK.
Ann Clin Lab Sci. 2016 May;46(3):302-7.

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Ko AR, Jin DK, Cho SY, Park SW, Przybylska M, Yew NS, Cheng SH, Kim JS, Kwak MJ, Kim SJ, Sohn YB.
Mol Genet Metab. 2016 Apr;117(4):447-55. doi: 10.1016/j.ymgme.2016.02.001. Epub 2016 Feb 3.

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.
Cho EK, Kim J, Yang A, Ki CS, Lee JE, Cho SY, Jin DK.
Orphanet J Rare Dis. 2016 Aug 9;11(1):113. doi: 10.1186/s13023-016-0496-x.

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
Kwak MJ, Huh R, Kim J, Park HD, Cho SY, Jin DK.
BMC Med Genet. 2016 Aug 12;17(1):58. doi: 10.1186/s12881-016-0319-x.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho SY, Bae JS, Kim NK, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK.
Am J Hum Genet. 2016 Jun 2;98(6):1243-8. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26.

A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia.
Chang MS, Han JC, Lee J, Kwun Y, Huh R, Ki CS, Kee C, Cho SY, Jin DK.
Ann Clin Lab Sci. 2015 Jan;45(1):90-3. PMID:25696017

Hypoparathyroidism in a 3-year-old Korean Boy with Sotos Syndrome and a Novel Mutation in NSD1.
Wejaphikul K, Cho SY, Huh R, Kwun Y, Lee J, Ki CS, Jin DK.
Ann Clin Lab Sci. 2015 Mar;45(2):215-8.

Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Sohn YB, Cho SY, Lee J, Kwun Y, Huh R, Jin DK.
Mol Genet Metab. 2015 Feb;114(2):156-60. doi: 10.1016/j.ymgme.2014.08.009. Epub 2014 Aug 30.

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.
Kwun Y, Kim SJ, Lee J, Isojima T, Choi DS, Kim DK, Huh J, Kang IS, Chang M, Cho SY, Sohn YB, Park SW, Jin DK.
J Korean Med Sci. 2015 Jul;30(7):911-6. doi: 10.3346/jkms.2015.30.7.911. Epub 2015 Jun 10.

Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
Kim C, Kwak MJ, Cho SY, Ko AR, Rheey J, Kwon JY, Chung Y, Jin DK.
Orphanet J Rare Dis. 2015 Sep 25;10(1):121. doi: 10.1186/s13023-015-0337-3.

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.
Kim SJ, Kwak HH, Cho SY, Sohn YB, Park SW, Huh R, Kim J, Ko AR, Jin DK.
Mol Pharm. 2015 Oct 5;12(10):3759-65. doi: 10.1021/acs.molpharmaceut.5b00550. Epub 2015 Sep 21.

Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
Lee J1, Isojima T, Chang MS, Kwun YH, Huh R, Cho SY, Sohn YB, Jin DK.
Am J Med Genet A. 2015 Jan;167A(1):86-94. doi: 10.1002/ajmg.a.36816. Epub 2014 Oct 22.

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in
osteogenesis imperfecta.
Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ,
Sohn YB, Park SW, Lee J, Kwun Y,Carney TJ, Huh R, Ikegawa S, Jin DK.
Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731.

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.
Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK.
Ann Pediatr Endocrinol Metab. 2015 Mar;20(1):40-5. doi: 10.6065/apem.2015.20.1.40. Epub 2015 Mar 31.

Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl
and a literature review of similar cases.
Kim H, Kim J, Huh R, Cho SY, Jin DK.
Ann Pediatr Endocrinol Metab. 2015 Jun;20(2):106-9. doi: 10.6065/apem.2015.20.2.106. Epub 2015 Jun 30.

Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi
syndrome.
Huh R, Cho SY, Kim J, Ki CS, Jin DK.
Ann Clin Lab Sci. 2015 Jul;45(4):458-61.

Effect of Systemic High Dose Enzyme Replacement Therapy on the Improvement of CNS Defects in a
Mouse Model of Mucopolysaccharidosis Type II
Sung Yoon Cho1,7, Jeehun Lee1,7, Ah-Ra Ko2, Min Jung Kwak3, Sujin Kim4, Young Bae Sohn5,
Sung Won Park6, Dong-Kyu Jin1
Orphanet Journal of Rare Diseases 2015 Oct

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with
Mucopoly-saccharidosis Type II (Hunter Syndrome).
Cho SY, Huh R, Chang MS, Lee J, Kwun YG, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK,HanSJ, Jung JY, Jin DK. J
Korean Med Sci 2014; 29: 254-260

Impact of high admission blood pressure without history of hypertension on clinical outcomes of patients with acute myocardial infarction: from Korea Acute Myocardial Infarction Registry.
Cho JY, Jeong MH, Ahn Y, Jeong HC, Jang SY, Kim SS, Rhew SH, Jeong YW, Lee KH, Park KH, Sim DS, Yoon NS, Yoon HJ, Kim KH, Hong YJ, Park HW, Kim JH, Cho JG, Park JC, Kim YJ, Kim CJ, Cho MC, Han KR, Kim HS;
Korea Acute Myocardial Infarction Registry Investigators. Int J Cardiol. 2014 Mar 1;172(1):e54-8

Clinical characterization and molecular classification of 12 korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
Cho SY, Yoon YA, Ki CS, Huh HJ, Yoo HW, Lee BH, Kim GH, Yoo JH, Kim SY, Kim SJ, Sohn YB, Park SW, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Jin DK.
Exp Clin Endocrinol Diabetes. 2013 Oct;121(9):539-45

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.
Kim SJ, Cho SY, Maeng SH, Sohn YB, Kim SJ, Ki CS, Jin DK.
Korean J Pediatr. 2013 Aug;56(8):355-8

A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with copolysaccharidosis IIIB.
Kim YE, Park HD, Jang MA, Ki CS, Lee SY, Kim JW, Cho SY, Jin DK.
Ann Lab Med. 2013 May;33(3):221-4

IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome
Kim J, Park MR, Kim DS, Lee JO, Maeng SH, Cho SY, Han Y, Ahn K, Jin DK.
Allergy. 2013 Jun;68(6):796-802

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK.
Am J Med Genet A. 2013 May;161A(5):1036-43

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).
Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK.
Orphanet J Rare Dis. 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42.

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
Park HD, Ko AR, Ki CS, Lee SY, Kim JW, Cho SY, Kim SH, Park SW, Sohn YB, Jin DK.
Am J Med Genet A. 2013 Mar;161(3):509-17

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
Yoon Cho S, Ki CS, Bae Sohn Y, Hyun Maeng S, Jin Jung Y, Jin Kim S, Jin DK.
J Hum Genet. 2013 Mar;58(3):150-4

The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
Huh HJ, Seo JY, Cho SY, Ki CS, Lee SY, Kim JW, Park HD, Jin DK.
Ann Lab Med. 2013 Jan;33(1):75-9.

Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.
Cho SY, Ki CS, Park HD, Kim SJ, Sohn YB, Maeng SH, Jung YJ, Jin DK.
Clin Endocrinol (Oxf). 2013 Feb;78(2):317-20

Intravitreal human complement factor H in a rat model of laser-induced choroidal neovascularization
Kim SJ, Kim J, Lee J, Cho SY, Kang HJ, Kim KY, Jin DK.
Br J Ophthalmol. 2013 Mar;97(3):367-70

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome typeI and growth hormone deficiency.
Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK.
Clin Lab Sci. 2012 Summer;42(3):307-12.

Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation.
Sohn YB, Park SW, Kim SH, Cho SY, Ji ST, Kwon EK, Han SJ, Oh SJ, Park YJ, Ko AR, Paik KH, Lee J,
Lee DH, Jin DK.
Am J Med Genet A. 2012 May;158A(5):1158-63. doi: 10.1002/ajmg.a.35263. Epub 2012 Apr 11.

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.
Cho SY, Ki CS, Jang JH, Sohn YB, Park SW, Kim SH, Kim SJ, Jin DK.
Am J Med Genet A. 2012 Jun;158A(6):1462-6. doi: 10.1002/ajmg.a.35357. Epub 2012 May 11.

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
Hong SH, Chu H, Kim KR, Ko MH, Kwon SY, Moon IJ, Chung WH, Cho YS, Kim CH, Suh MW, Choi EW, Sohn YB, Park SW, Kim SH, Cho SY, Ko AR, Jin DK.
Am J Med Genet A. 2012 Sep;158A(9):2131-8. doi: 10.1002/ajmg.a.35498. Epub 2012 Jul 27.

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.
Sohn YB, Park HD, Park SW, Kim SH, Cho SY, Ko AR, Ki CS, Yeau S, Jin DK.
Ann Clin Lab Sci. 2012 Winter;42(1):89-93.

Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK.
J Korean Med Sci. 2012 May;27(5):565-8. Epub 2012 Apr 25.

Continuous renal replacement therapy in neonates weighing less than 3 kg.
Sohn YB, Paik KH, Cho HY, Kim SJ, Park SW, Kim ES, Chang YS, Park WS, Choi YH, Jin DK.
Korean J Pediatr. 2012 Aug;55(8):286-92. Epub 2012 Aug 23.

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.
Lee OJ, Kim SJ, Sohn YB, Park HD, Lee SY, Kim CH, Ko AR, Yook YJ, Lee SJ, Park SW, Kim SH, Cho SY, Kwon EK, Han SJ, Jin DK.
Korean J Pediatr. 2012 Mar;55(3):88-92. Epub 2012 Mar 16.

Genetic Investigation of Patients with undetectable Peaks of Growth Hormone after two Provocation Tests.
Cho SY, Ki CS, Park HD, Kim SJ, Sohn YB, Maeng SH, Jung YJ, Jin DK.
Clin Endocrinol (Oxf). 2012 Jul 28. doi: 10.1111/j.1365-2265.2012.04514.x. [Epub ahead of print]

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.
Korean J Pediatr. 2012 Jul;55(7):224-31. Epub 2012 Jul 17.Jin DK.

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
Park SW, Lee ST, Sohn YB, Cho SY, Kim SH, Kim SJ, Kim CH, Ko AR, Paik KH, Kim JW, Jin DK.
Korean J Pediatr. 2012 Oct;55(10):388-92

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.
Lee NH, Cho SY, Maeng SH, Jeon TY, Sohn YB, Kim SJ, Park HD, Jin DK.
Korean J Pediatr. 2012 Nov;55(11):430-7

Transient complete atrioventricular block associated with curcumin intake.
Lee SW, Nah SS, Byon JS, Ko HJ, Park SH, Lee SJ, Shin WY, Jin DK.
Int J Cardiol. 2011 Jul 15;150(2):e50-2

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter
syndrome).
Kwon JY, Ko K, Sohn YB, Kim SJ, Park SW, Kim SH, Cho SY, Jin DK.
Am J Med Genet A. 2011 Jun;155A(6):1329-35.

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed bybiochemical, and molecular evidence.
Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK.
Ann Clin Lab Sci. 2011 Spring;41(2):182-7.

The metabolic syndrome and body composition in childhood cancer survivors.
Sohn YB, Kim SJ, Park SW, Kim SH, Cho SY, Lee SH, Yoo KH, Sung KW, Chung JH, KooHH, Jin DK.
Korean J Pediatr. 2011 Jun;54(6):253-9. Epub 2011 Jun 30.

Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II.
Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK.
Clin Genet. 2011 Feb 3. doi: 10.1111/j.1399-0004.2011.01641.x. [Epub ahead of print]


Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal
dysplasia.
Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, AhnGH,
ChoiYL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK.
Hum Genet. 2011 May;129(5):497-502

Delayed response of amylin levels after an oral glucose challenge in children with Prader-Willi syndrome.
Lee HJ, Choe YH, Lee JH, Sohn YB, Kim SJ, Park SW, Son JS, Kim SW, Jin DK.
Yonsei Med J. 2011 Mar 1;52(2):257-62

Changes in glycogen and glycosaminoglycan levels in hepatocytes of iduronate-2-sulfatase knockout mice before and after recombinant iduronate-2-sulfatase supplementation.
Lee JH, Choe YH, Kim SJ, Paik KH, Jin DK.
Yonsei Med J. 2011 Mar 1;52(2):263-7.

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK.
Ann Clin Lab Sci. 2011 Fall;41(1):84-8

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in GLB1gene
Young Bae Sohn1, Hyung-Doo Park2,Sung Won Park1, Se-Hwa Kim1, Sung-Yoon Cho1, Ah-Ra Ko3,
Chang-SeokKi2, SungheeYeau4, Dong-KyuJin1
Ann Clin Lab Sci. 2011 winter;41(4) accepted (in press)

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis onthe cardiovascular complication and mortality cases.
Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ,
Paik KH, Jin DK.
Am J Med Genet A. 2011 Nov 21. doi: 10.1002/ajmg.a.34371. [Epub ahead of print]

A Mother and Daughter with the p.R443X Mutation of Mucopolysaccharidosis Type II: Genotype and Phenotype Analysis.
Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK.
American Journal of Medical Genetics: Part A. 2010 Dec;152A(12):3129-32.

Clinical, Biochemical, and Genetic Analysis of Korean Patients with Pseudohypoparathyroidism Type Ia.
Park CH, Park HD, Lee SY, Kim JW, Sohn YB, Park SW, Jin DK.
Ann Clin Lab Sci. 2010 Summer;40(3):261-6.

Correlation of adiponectin receptor expression with cytokines and insulin sensitivity in growth
hormone (GH)-treated children with Prader-Willi syndrome and in non-GH-treated obese children.
Sohn YB, Kwak MJ, Kim SJ, Park SW, Kim CH, Kim MY, Kwon EK, Paik KH, Jin DK.
J Clin Endocrinol Metab. 2010 Mar;95(3):1371-7

Correlation between hyperghrelinemia and carotid artery intima-media thickness in children with
Prader-Willi syndrome.
Kim SJ, Paik KH, Kim DI, Choe YH, Kim SW, Jin DK.
Yonsei Med J. 2010 May;51(3):339-44

Differential effects of insufflated, subcutaneous, and intravenous growth hormone on bone growth,
cognitive function, and NMDA receptor subunit expression.
Park SW, Shin S, Kim CH, Ko AR, Kwak MJ, Nam MH, Park SY, Kim SJ, Sohn YB, Galinsky RE, Kim H, Yeo Y, Jin DK.
Endocrinology. 2010 Sep;151(9):4418-27

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8
vector-mediated gene therapy.
Jung SC, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK.
Mol Cells. 2010 Jul;30(1):13-8

Clinical Research Experience
Start Phase Indication Role
2021.01 OS Short stature PI
2018.02 III,Ex Hunter syndrome PI
2017.02 OS Urea Cycle Disorder PI
2016.07 III Hunter syndrome PI
2016.04 III Small for Gestational Age PI
2014.06 III Prader-Willi syndrome PI
2014.01 OS Hunter syndrome patients, OS PI
2013.06 III Idiopathic short stature PI
2013.02 III Idiopathic short stature PI
2013.01 III Turner syndrome PI
2012.06 III Hunter syndrome PI
2012.03 III Idiopathic short stature PI
2012.02 III Mucopolysaccharidosis IVA PI
2011 Ⅳ Precocious puberty PI
2011 III Mucopolysaccharidosis IVA PI
2010 1/2 Hunter syndrome PI


X
  • Josef Penninger, Canada
Affiliation
Life Sciences Institute (LSI), the University of British Columbia, University of Vienna, University of Toronto
Session
[Plenary 4: Bone] Oct. 8, 2022 (Sat.) 08:45-09:30 - Speaker
Topic
Bone and Beyond – Focus on RANKL and RANK
Biography
Josef Penninger, MD
Director, Life Sciences Institute, UBC
Professor, Dept of Medical Genetics, UBC
Canada 150 Research Chair in Functional Genetics
Professor of Genetics, University of Vienna
Honorary Professor, Chinese Academy of Medical Sciences and Qingdao University
Guest Professor, Medical University of Vienna
Full Professor (status only), Dept of Immunology, University of Toronto

Josef Martin Penninger, born in Gurten, Austria, is a world-renowned geneticist and the Canada 150 Research Chair in Functional Genetics. Dr. Penninger is currently the Director of the Life Sciences Institute (LSI) at the University of British Columbia. He studied medicine at the University of Innsbruck in Austria. From 1990 to 1994 he worked as post-doctoral fellow at the Ontario Cancer Institute, thereafter until 2002 at the Department of Immunology and Medical Biophysics at the University of Toronto. As Principal Investigator at Amgen, his independent lab contributed to the development of the antibody Denosumab for bone loss and also found the first connection for RANKL to mammary gland development in pregnancy and breast cancer. In 2002, he moved to Vienna, Austria to start and develop the Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), which has become one of the prime research centers in the world. Dr. Penninger envisions to recreate this environment at the LSI to nurture and train the best and brightest young minds of UBC scholars. His major accomplishments include pioneering insights into the molecular basis of osteoporosis and breast cancer, and demonstrating a critical role for ACE2 as the cellular receptor for SARS Coronavirus infections and linking ACE2 to lung failure in such infections. He has published extensively in several multidisciplinary scientific journals, with over 65 publications in Cell, Nature, and Science. Josef has received numerous awards including the Wittgenstein Prize of the Austrian Federal Government, the Descartes Prize for Research, the Ernst Jung Prize for Medical Excellence, the Innovator Award of the US Department of Defense, and the Austrian Cross of Honor for Science and Art First Class.


X
  • Makoto Tachibana, Japan
Affiliation
Osaka University
Session
[Plenary 3: Sex and Gender] Oct. 7, 2022 (Fri.) 08:00-08:45 - Speaker
Topic
Sex Differentiation: What’s New?
Biography
Lab. of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University,

Education:
1990 B.D. University of Tokyo, School of Agriculture, Japan
1992 Master D. University of Tokyo, School of Agriculture, Japan
1995 Ph.D. University of Tokyo, School of Agriculture, Japan

Research and Professional Experience:
1995-1997: Postdoctral fellow, Mitshubishi Kagaku Institute of Life Sciences, Japan
1997-1998: Research scientist, Nihon ROCHE Research Center, Kamakura, Japan
1998-2005: Assistant professor, Institute for Virus Research, Kyoto University, Japan
2005-2013: Associate professor, Institute for Virus Research, Kyoto University, Japan
2009-2011: PRESTO researcher, Japan Science and Technology Agency, Japan
2013-2018: Professor, Institute for Enzyme Research, Tokushima University, Japan
2018-present: Professor, Graduate School of Frontier Biosciences, Osaka University, Japan

Memberships in Professional Societies
1998-present: The molecular Biology Society of Japan
2007-present: The Japanese society for Epigenetics

Selected Publications (15 of the 97 publications) *corresponding author

1. Maeda R, *Tachibana M. HP1 maintains protein stability of H3K9 methyltransferases and demethylases. EMBO Rep 23: e53581 (2022)

2. Miyawaki S, Kuroki S, Maeda R, Okashita N, Koopman P, *Tachibana M. The mouse Sry locus harbors a cryptic exon that is essential for male sex determination. Science 370: 121-4 (2020)

3. Kuroki S, Maeda R, Yano M, Kitano S, Miyachi H, Fukuda M, Shinkai Y, *Tachinana M. H3K9 demethylases JMJD1A and JMJD1B control prospermatogonia to spermatogonia transition in mouse germline. Stem Cell Reports 15:424-38 (2020)

4. Okashita N, Kuroki S, Maeda R, *Tachibana M. TET2 catalyzes active DNA demethylation of the Sry promoter and enhances its expression. Sci Rep 9:e13462 (2019)

5. Kuroki S, Nakai Y, Maeda R, Okashita N, Akiyoshi M, Yamaguchi Y, Kitano S, Miyachi S, Nakato R, Ichiyanagi K, Shirahige K, Kimura H, Shinkai Y, *Tachibana M. Combined loss of Jmjd1a and Jmjd1b reveals critical roles for H3K9 demethylation in the maintenance of embryonic stem cells and early embryogenesis. Stem Cell Reports 10:1340-54 (2018)

6. Kuroki S, Okashita N, Baba S, Maeda R, Miyawaki S, Yano M, Yamaguchi M, Kitano S, Miyachi H, Itoh A, Yoshida M, *Tachibana M. Rescuing the aberrant sex development of H3K9 demethylase Jmjd1a-deficeint mice by modulating H3K9 methylation balance. PLoS Genet 13:e1007034 (2017)

7. Kuroki S, Matoba S, Akiyoshi M, Matsumura Y, Miyachi H, Mise N, Abe K, Ogura A, Wilhelm D, Koopman P, Nozaki M, Kanai Y, *Shinkai Y, *Tachibana M. Epigenetic regulation of mouse sex determination by the histone demethylase Jmjd1a. Science 341:1106-9 (2013)

8. *Shinkai Y, Tachibana M. H3K9 methyltransferase G9a and the related molecule GLP. Genes Dev 25:781-8 (invited review) (2011)

9. Matsui T, Leung D, Miyashita H, Maksakova IA, Miyachi H, Kimura H, Tachibana M, *Lorincz MC, *Shinkai Y. Proviral silencing in ES cells requires the histone methyltransferase ESET. Nature 464:927-31 (2010)

10. *Tachibana M, Matsumura Y, Fukuda M, Kimura H, *Shinkai Y. G9a/GLP complexes independently mediate H3K9 and DNA methylation to silence transcription. The EMBO journal 27:2681-90 (2008)

11. *Tachibana M, Nozaki M, Takeda N, *Shinkai Y. Functional Dynamics of H3K9 Methylation During Meiotic Prophase Progression. The EMBO journal 26:3346-59 (2007)

12. Tachibana M, Ueda J, Fukuda M, Takeda N, Ohta T, Iwanari H, Sakihama T, Kodama T, Hamakubo T, *Shinkai Y. Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. Genes Dev 19:815-26 (2005)

13. *Tachibana M, Sugimoto K, Nozaki M, Ueda J, Ohta T, Ohki M, Fukuda M, Takeda N, Niida H, Kato H, *Shinkai Y. G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis. Genes Dev 16:1779-91 (2002)

14. Tachibana M, Sugimoto K, Fukushima T, *Shinkai Y. SET-domain containing protein, G9a, is a novel lysine-preferring mammalian histone methylthansferase with hyperactivity and specific selectivity to lysines 9 and 27 of histone H3. J Biol Chem 276:25309-17 (2001)

15. Tachibana M, Siddiqi M A, Ikegami Y, Eshima K, Shirota-Someya Y, Tahara-Hanaoka S, Koito A, Iizuka M, *Shinohara N. Coreceptor Function of Mutant Human CD4 molecules without Affinity to gp120 of Human Immunodeficiency Virus. J Biol Chem 275, 20288-94 (2000)


X
  • Thomas Kay, Australia
Affiliation
St Vincent’s Institute of Medical Research (SVI)
Session
[Plenary 2: Diabetes] Oct. 6, 2022 (Thu.) 14:45-15:30 - Speaker
Topic
Plenary 2: BANDIT Trial: New Way to Manage T1DM and Immunotherapy Symposium 5: Prevention/Cure of T1D/Islet Transplant/Beta Cell Regeneration
Biography
Tom Kay is Director of St. Vincent’s Institute of Medical Research in Fitzroy and an Honorary Professorial Fellow at The University of Melbourne. He trained in endocrinology and clinical immunology at the Royal Melbourne Hospital and the Walter and Eliza Hall Institute. After a post-doctoral fellowship in the Thyroid Unit at the Massachusetts General Hospital he returned to the Walter and Eliza Hall Institute until 2002. His research is focused on the pathogenesis and immunotherapy of type 1 diabetes including clinical islet transplantation, and mechanism-based treatments early in the course of diabetes. Professor Kay is a fellow of the Australian Academy of Health and Medical Sciences, a Director of the Association of Australian Medical Research Institutes, Secretary of the International Pancreas and Islet Transplant Association and the immediate Past President of The Immunology of Diabetes Society.


X
  • Ana Claudia Latronico, Brazil
Affiliation
University of Sao Paulo (USP)
Session
[Symposium 2: Puberty] Oct. 6, 2022 (Thu.) 15:45-17:15 - Speaker
Topic
Genetic Basis of Familial Central Precocious Puberty
Biography
Chief, Division of Endocrinology and Metabolism, Hospital of Clinics,
Professor of Medicine, University of Sao Paulo (USP)

EDUCATION/TRAINING

1988-1989 Medical Resident Hospital of Clinics, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil (Internal Medicine)
1989-1990 Clinical Fellow Hospital of Clinics, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil (Endocrinology)
1991-1993 Research Fellow School of Medicine, University of Sao Paulo, Sao Paulo, Brazil (Endocrinology)
1994-1995 Special Volunteer Research Fellow National Institutes of Health Child Health and Human Development (Endocrinology)
1996-1998 Post-doctor Fellow Hospital of Clinics, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil (Endocrinology)

A. Personal Statement

I am a full Professor of Medicine at Sao Paulo Medical School of Sao Paulo University (USP), Head of the Endocrinology & Metabolism Service at Hospital das Clínicas, Principal Researcher at the Laboratory of Hormones and Molecular Genetics in Sao Paulo, Brazil. I earned my doctorate in Endocrinology at Sao Paulo University and National Institutes of Health (Maryland, USA). I am elected full member of the Brazilian Academy of Sciences and I have been honored with several awards, including Richard E. Weitzman Memorial Award (2003) and International Excellence Award (2019) granted by the Endocrine Society. A major focus of my research has been to elucidate the genetic mechanisms of several pediatric endocrine diseases, including adrenal tumors, precocious puberty (peripheral e central forms) and hypogonadotropic hypogonadism. In recent years, my research group was the first to identify and characterize the monogenic causes of inherited central precocious puberty. My research has involved clinical and genetic studies in humans using genetic approach (DNA sequencing and methylation analysis). I am author of more than 200 original manuscripts published in international and national journals, including four publications in The New England Journal of Medicine, three of them as first or senior author.

B. Positions and Honors

Positions and Employment
2001-2006 Assistant Professor of Medicine, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil
2006-2011 Associate Professor of Medicine, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil
2011- Full Professor School of Medicine, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil
2014-2016 Chief, Department of Medicine, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil
2014- Vice-President of International Affairs Committee, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil
2017- Chief, Division of Endocrinology and Metabolism, Hospital of Clinics, School of Medicine, University of Sao Paulo, Sao Paulo, Brazil

Honors
1995 Latin American Society of Pediatric Endocrinology Award, outstanding abstract, Ica, Peru
1996 Endocrine Society Travel Award, 10th Int. Congress of Endocrinology, San Francisco, USA
1997 Endocrine Society Travel Award, 79th Annual Meeting, Minneapolis, Minnesota, USA
1997 Latin American Society of Pediatric Endocrinology Award, outstanding abstract, Pucon, Chile
2000 Latin American Society of Pediatric Endocrinology Award, outstanding abstract, Ushuaia, Argentina
2003 Latin American Society of Pediatric Endocrinology Award, outstanding abstract, Cancun, México
2006 Latin American Society of Pediatric Endocrinology Award, outstanding abstract, Vina del Mar, Chile
2007 Latin A. Society of Pediatric Endocrinology Award, outstanding abstract, Mar del Plata, Argentina
2007 Travel Grant Award, Endocrine Society, outstanding abstract, Toronto, Canada
2008 International Sym. of Neuroendocrinology (SINE), outstanding abstract, Rio de Janeiro, Brazil
2012 ABE&M Award, outstanding original publication in the translational area
2013 Hormone Research in Pediatrics’ Prize, 9th Joint Meeting of Pediatric Endocrinology, Milan
2000 Brazilian Young Investigator Award, Brazilian Congress of Endocrinology, Rio de Janeiro, Brazil
2003 Richard E. Weitzman Memorial Award, Endocrine Society, Philadelphia, Pennsylvania. USA
2009 CAPES Award as mentor of the Ph.D. thesis of Milena Gurgel Telles
2012 CAPES Award (Honor Merit) as mentor of Ph.D. thesis of Ana Paula Abreu Silva
2012 Honor Merit, American Society of Human Reproduction (AMHR), San Diego, California
2015 Plenary Lecture at Annual Meeting of Endocrine Society, San Diego, California
2016 CAPES Award (Honor Merit) as mentor of Ph.D. thesis of Delanie Macedo
2016 USP Thesis Award as mentor of Ph.D. thesis of Delanie Macedo
2019 Senior Investigator - Sociedade Brasileira de Endocrinologia e Metabologia (COPEM 2019)
2019 International Excellence in Endocrinology, Endocrine Society, New Orleans

C. Contributions to Science (197 articles – PUBMED, citations: 11.609, H: 59).
More recent articles

1. My laboratory has made important contributions to understanding genetic and molecular mechanisms controlling the reproductive axis. We were the first to identify mutations in KISS1 and KISS1R in patients with central precocious puberty. We also identified mutations in KISS1R in patients with hypogonadotropic hypogonadism. We also unveiled the molecular mechanism by which a KISS1R mutation causes central precocious puberty.
a. Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC. A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med. 2008 Feb 14;358(7):709-15. doi: 10.1056/NEJMoa073443. PMID: 18272894; PMCID: PMC2859966.
b. Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M, Escobar ME, Arnhold IJ, Mendonca BB, Kaiser UB, Latronico AC. Mutations of the KISS1 gene in disorders of puberty. J Clin Endocrinol Metab. 2010 May;95(5):2276-80. doi: 10.1210/jc.2009-2421. Epub 2010 Mar 17. PMID: 20237166; PMCID: PMC2869552.
c. Bianco SD, Vandepas L, Correa-Medina M, Gereben B, Mukherjee A, Kuohung W, Carroll R, Teles MG, Latronico AC, Kaiser UB. KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation. Endocrinology. 2011 Apr;152(4):1616-26. doi: 10.1210/en.2010-0903. Epub 2011 Feb 1. PMID: 21285314; PMCID: PMC3060635.
d. Teles MG, Trarbach EB, Noel SD, Guerra-Junior G, Jorge A, Beneduzzi D, Bianco SD, Mukherjee A, Baptista MT, Costa EM, De Castro M, Mendonça BB, Kaiser UB, Latronico AC. A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism. Eur J Endocrinol. 2010 Jul;163(1):29-34. doi: 10.1530/EJE-10-0012. Epub 2010 Apr 6. PMID: 20371656.

2. We were the first to identify the association of MKRN3 with Central Precocious Puberty. MKRN3 is the first imprinted gene associated with non-syndromic Central Precocious Puberty and loss-of-function mutations in MKRN3 is the most common genetic defect associated with CPP.
a. Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013 Jun 27;368(26):2467-75. doi: 10.1056/NEJMoa1302160. Epub 2013 Jun 5. PMID: 23738509; PMCID: PMC3808195.
b. Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14. PMID: 24628548; PMCID: PMC4037732.
c. Seraphim CE, Canton APM, Montenegro L, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, de Castro Leal A, Gagliardi PC, Antonini SR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillén L, Escribano-Muñoz A, Corripio R, Labarta JI, Travieso-Suárez L, Ortiz-Cabrera NV, Argente J, Mendonca BB, Brito VN, Latronico AC. Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations. J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041-1050. doi: 10.1210/clinem/dgaa955. Erratum in: J Clin Endocrinol Metab. 2021 Jun 26; PMID: 33383582; PMCID: PMC7993586.
d. Bessa DS, Macedo DB, Brito VN, França MM, Montenegro LR, Cunha-Silva M, Silveira LG, Hummel T, Bergadá I, Braslavsky D, Abreu AP, Dauber A, Mendonca BB, Kaiser UB, Latronico AC. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology. 2017;105(1):17-25. doi: 10.1159/000446963. Epub 2016 May 26. PMID: 27225315; PMCID: PMC5195904.

3. Subsequently to the identification of the first imprinted gene associated with central precocious puberty, we identified a second maternally imprinted gene associated with Central Precocious Puberty, DLK1.
a. Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC. Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. J Clin Endocrinol Metab. 2017 May 1;102(5):1557-1567. doi: 10.1210/jc.2016-3677. PMID: 28324015; PMCID: PMC5443333.
b. Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC. DLK1 Is a Novel Link Between Reproduction and Metabolism. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010. PMID: 30462238.
c. Montenegro L, Labarta JI, Piovesan M, Canton APM, Corripio R, Soriano-Guillén L, Travieso-Suárez L, Martín-Rivada Á, Barrios V, Seraphim CE, Brito VN, Latronico AC, Argente J. Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study. J Clin Endocrinol Metab. 2020 Oct 1;105(10):dgaa461. doi: 10.1210/clinem/dgaa461. PMID: 32676665.

4. My laboratory has contributed to the identification of several genes associated with hypogonadotropic hypogonadism.
a. Barroso PS, Jorge AAL, Lerario AM, Montenegro LR, Vasques GA, Lima Amato LG, Gontijo Silveira LF, Mendonca BB, Latronico AC. Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort. Neuroendocrinology. 2020;110(11-12):959-966. doi: 10.1159/000504783. Epub 2019 Nov 15. PMID: 31726455.
b. Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG. New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764. PMID: 31200363.
c. Beneduzzi D, Iyer AK, Trarbach EB, Silveira-Neto AP, Silveira LG, Tusset C, Yip K, Mendonça BB, Mellon PL, Latronico AC. Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism. Eur J Endocrinol. 2011 Jul;165(1):145-50. doi: 10.1530/EJE-11-0199. Epub 2011 May 4. PMID: 21543378; PMCID: PMC3203643.
d. Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab. 2008 Oct;93(10):4113-8. doi: 10.1210/jc.2008-0958. Epub 2008 Aug 5. PMID: 18682503.

5. I have identified mutations in LHB in patients with hypogonadism and LHR in patients with peripheral precocious puberty. These findings broadening the understanding of the gonadotropin regulation of the reproductive axis.
a. Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendonca BB, Bloise W, Castro M, Tsigos C, Chrousos GP. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med. 1996 Feb 22;334(8):507-12. doi: 10.1056/NEJM199602223340805. PMID: 8559204.
b. Şimşek E, Montenegro LR, Binay C, Demiral M, Acıkalin MF, Latronico AC. Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency. Horm Res Paediatr. 2016;85(3):207-12. doi: 10.1159/000442289. Epub 2015 Dec 2. PMID: 26625121.
c. Lofrano-Porto A, Barra GB, Giacomini LA, Nascimento PP, Latronico AC, Casulari LA, da Rocha Neves Fde A. Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med. 2007 Aug 30;357(9):897-904. doi: 10.1056/NEJMoa071999. PMID: 17761593.
d. Charmandari E, Guan R, Zhang M, Silveira LG, Fan QR, Chrousos GP, Sertedaki AC, Latronico AC, Segaloff DL. Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation. Mol Endocrinol. 2016 Jan;30(1):62-76. doi: 10.1210/me.2015-1205. Epub 2015 Nov 10. Erratum in: Endocrinology. 2017 Jul 1;158(7):2406. PMID: 26554443; PMCID: PMC4695626.
e. Cunha-Silva M, Brito VN, Macedo DB, Bessa DS, Ramos CO, Lima LG, Barroso PS, Arnhold IJP, Segaloff DL, Mendonca BB, Latronico AC. Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. Hum Reprod. 2018 May 1;33(5):914-918. doi: 10.1093/humrep/dey049. PMID: 29538680.



D. Research Support
1999-present - Conselho Nacional de Desenvolvimento Tecnológico (CNPq) Process # 300151/1996-9.
2021- present Fundação de Amparao à Pesquisa do Estado de São Paulo Process 19/27631-7

Others
1997- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process # 1997/1196-1 - Research in collaboration with Berenice Bilharinho de Mendonca. Amount: U$ 379,500.00
1999- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process # 1999/0200-1. Amount: U$ 30,000.00
2001- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process # 2001/14092-4. Amount: U$ 473.969,76
2000 - Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process # 2001/14092-0. Amount: U$ 55,1827.30
2005- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process # 04726-0. Amount: U$ 800,000.00
2014 e 2016 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Process # 13/03236-5


X
  • Andrew J. Bauer, USA
Affiliation
The University of Pennsylvania
Session
[Symposium 6: Thyroid] Oct. 7, 2022 (Fri.) 14:30-16:00 - Speaker
Topic
Update on the Management of Thyroid Nodule
Biography
Education:
1989 BS Canisius College (Biochemistry)
1993 MD SUNY Buffalo School of Medicine and Biomedical Sciences (Medicine)

Postgraduate Training and Fellowship Appointments:
1993-1994: Pediatric Intern, Madigan Army Medical Center, Fort Lewis, WA
1994-1996: Pediatric Resident, Madigan Army Medical Center, Fort Lewis, WA
1999-2002: Fellow, Pediatric Endocrinology, National Capital Consortium, Uniformed Services University of the Health Sciences, Bethesda, MD
2019-2010: Physician Leadership Program, The Children's Hospital of Philadelphia

Faculty Appointments:
2002-2006: Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, National Capital Consortium, Bethesda, MD.
2006-2013: Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD.
2009-2013: Associate Professor of Pathology, Uniformed Services University of the Health Sciences, Bethesda, MD. (secondary)
2011-2014: Adjunct Associate Professor of Pediatrics, University of Pennsylvania School of Medicine
2014-2020: Associate Professor of Pediatrics at the Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine
2020-present: Professor of Pediatrics at the Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine

Hospital and/or Administrative Appointments:
2005-2013: Program Director, Pediatric Endocrinology Fellowship, Uniformed Services University of the Health Sciences, National Capital Consortium, Bethesda, MD.
2009-Present: Medical Director, The Thyroid Center, The Children's Hospital of Philadelphia.

Other Appointments:
2007-2010: President, Faculty Senate, Uniformed Services University, Bethesda, MD; representing 4500 faculty across the Military Health System
2011-Present: Special Volunteer with clinical privileges, National Institutes of Health, NICHD/DEB/SEGEN, Bethesda, MD
2015-present: Faculty, Research Institute Summer Scholars Program (CRISSP), The Children's Hospital of Philadelphia

Specialty Certification:
1996 General Pediatrics, American Board of Pediatrics
2003 Pediatric Endocrinology, American Board of Pediatrics

Licensure:
1995 Commonwealth of Pennsylvania
2015 New Jersey

Awards, Honors and Membership in Honorary Societies:
2009 "A" Proficiency Designator, United States Army Office of the Surgeon General (Military equivalent of academic rank of Professor)
2009 Ogden C. Bruton Basic Science Award, Third Place, 43rd annual AAP Uniformed Services Pediatric Seminar, Oahu, HI
Indianapolis, IN
2010 ACGME, RRC Site Visit: awarded 5-year accreditation without citation while serving as Program Director of the USU NCC Pediatric Endocrinology Fellowship program
2010 Andrew Margileth Award, Finalist, 44th annual AAP Uniformed Services Pediatric Seminar, San Diego, CA
2010 Leo Gepperat Clinical Case Award, 1st Place, 44th annual AAP Uniformed Services Pediatric Seminar, San Diego, CA
2013 Military Awards (1984-2013); Meritorious Service Medal(4), Army Commendation Medal(5), Army Achievement Medal(2), Iraqi Campaign Medal(3), National Defense Medal(2); Meritorious Unit Commendation (2), Army Superior Unit Award(2)

Memberships in Professional and Scientific Societies and Other Professional Activities:
International:
2017-2019 World Health Organization, International Agency for Research on Cancer, Section of Environment and Radiation (Member, Expert Group; one of 12 international experts invited to develop guidelines for thyroid disease monitoring after radiation exposure. Funded by the Ministry of Environment of Japan)

Major Academic and Clinical Teaching Responsibilities:
2013-Present: Preceptor, Academic Clinic, Endocrine Fellowship, Division of Endocrinology, CHOP
2013-Present: Preceptor, Inpatient Consult Team, Division of Endocrinology, CHOP
2013-Present: Lecturer, Core Curriculum, Endocrine Fellowship, Division of Endocrinology, CHOP
2013-Present: Clinical Competency Committee, Endocrine Fellowship program, Children's Hospital of Philadelphia
2020 CHOP Clinical Advances in Pediatric Oncology Series (webinar, virtual). "Advanced Pediatric Thyroid Cancer; Is it time for a paradigm shift in care?"
2020 CHOP NICU Grand Rounds, "Thyroid Disorders in the NICU"
2020 CHOP Pediatric Grand Rounds (Veterans Day). "Military Medicine; A World of Opportunity"
2020-2022: Mentor, CHOP Division of Endocrinology, Alison O'Neil (fellow)

Lectures by Invitation:
Jan, 2022 Treatment and Prognosis of Grave's Disease in Children. Indian Society for Pediatric and Adolescent Endocrinology, Kerala, India (virtual)
Feb, 2022 Evaluation and Management of Thyroid Nodules in Children and Adolescents. 3rd Emirates Pediatric Endocrine Conferences, Dubai, UAE (virtual)
Feb, 2022 Optimizing Care for Pediatric Patients with Thyroid Nodules and Thyroid Cancer. Division of Endocrinology Grand Rounds, Stanford University
Feb, 2022 Unique Aspects of Thyroid Disease in Children and Adolescents: A Pragmatic Review. Department of Pediatrics Grand Rounds, Stanford University
Feb, 2022 Thyroid Cancer in Pediatrics: Beyond the 2015 ATA guidelines. Division of Pediatric Endocrinology Grand Rounds, University of Pittsburgh
Mar, 2022 Invasive Pediatric Thyroid Cancer: Treatment of PTC Pulmonary Metastasis. Emirates Thyroid Virtual Congress, Dubai, UAE (virtual)
Apr, 2022 Fusion Oncogenes are Associated with Invasive Disease in Children; Honorary Lecture for Zachary Jones, Medical Scientist Training Program, Vanderbilt University, Nashville, TN (virtual)
Apr, 2022 Hypothyroidism in Children: Optimizing Thyroid Hormone Replacement. Pearls in Pediatric Endocrinology, BAI Jerbai Wadia Hospital for Children, ISPAE, Institute of Child Health and Research, Mumbai, India (virtual)
May, 2022 Management of Pediatric Non-Medullary Thyroid Nodules/Cancer. Pediatric Symposium, 16th Annual International Montreal Pediatric Otolaryngology Congress, Montreal CA
Jun, 2022 Fusion Oncogenes are Associated with Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers. Thyroid, Head and Neck Cancer Foundation (virtual)
Jun, 2022 Thyroid Disease in PTEN Hamartoma Tumor Syndrome. PTEN Foundation annual meeting, Philadelphia, PA
Oct, 2022 Update in the Management of Thyroid Nodules in Pediatrics. Asia Pacific Paediatric Endocrine Society annual meeting, Seoul, Korea
Nov, 2022 Aligning the Pediatric Cytology Practice: What is the Role for Fine Needle Aspiration? Pediatric Symposium, Joint Meeting of the International Congress on Cytology and American Society of Cytopathology, Baltimore, MD

Grants:
Current:
Overcoming dedifferentiation of Pediatric Thyroid Cancer through Molecularly Targeted Therapy, DOD,PRCRP Translational Team Science Award, 13451147/113451140, 7/2022-6/2026 (Franco A, PI: Laetsch T, Co-Investigator), $564,242/annual direct costs, 10% effort (Role in grant: AI)

Tiratricol Treatment of Children with Monocarboxylate Transporter 8 Deficiency: Triac Trial II, Rare Thyroid Therapeutics International, 1/2021-1/2023 (Visser WE, PI), $20,000/annual direct costs, 5% effort (Role in grant: AI, Clinical Trials NCT#: NCT02396459)

CHOP Frontier Program, The Children's Hospital of Philadelphia, 7/2020-7/2023 (Bauer AJ, PI: Mostoufi-Moab S and Franco A, Co-Investigator), $900,000/annual direct costs, 20% effort (Role in grant: PI)

Bibliography:
Research Publications, peer reviewed (print or other media):
1. Baran JA, Bauer AJ, Halada S, Mostoufi-Moab S, Isaza A, Robbins S, Franco AT, Adzick NS, Patel T, Kazahaya K: Clinical Course of Early Postoperative Hypothyroidism Following Thyroid Lobectomy in Pediatrics. Thyroid Dec 2021.

2. Ricarte-Filho JC, Halada S, O'Neill A, Casado-Medrano V, Laetsch TW, Franco AT, Bauer AJ.: The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer. Cancer Genet 262-263: 57-63, Jan 2022.

3. Maksimoski M, Bauer AJ, Kazahaya K, Manning SC, Parikh SR, Simons JP, D'Souza J, Maddalozzo J, Purkey MR, Rychlik K, Ho B, Rutter M, Jiang W, Prager J, Diercks G, Propst E, Miyamoto RC, Stack BC, Randolph GW: Outcomes in pediatric thyroidectomy: Results from a multi-national, multi-institutional database. Otolaryngol Head Neck Surg Feb 2022.

4. Franco AT, Ricarte-Filho JC, Isaza A, Jones Z, Jain N, Mostoufi-Moab S, Surrey L, Laetsch TW, Li MM, Clague DeHart J, Reichenberger E, Taylor D, Kazahaya K, Adzick NS, Bauer AJ: Fusion-Oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers. J Clin Oncol 40(10), Apr 2022.

5. Van Remortel BJ, Chehab L, Bauer AJ, Isaza A, Yimei L, Baumgarten HD, Franco AT, Laetsch TW, Kazahaya K, Adzick NS, Mostoufi-Moab S: Surgical outcomes in survivors of childhood cancer undergoing thyroidectomy: A single-institution experience. Pediatr Blood Cancer 69(6), Jun 2022.

Research Publications, peer-reviewed reviews:
1. Halada S, Casado-Medrano V, Baran JA, Lee J, Chinmay P, Bauer AJ, Franco AT.: Hormonal cross-talk between thyroid and breast cancer. Endocrinology May 2022.

2. Casado-Medrano V, O'Neill A, Halada S, Laetsch TW, Bauer AJ, Franco AT: NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives. Cancer Genet 264-265, Jun 2022.

Abstracts:
- Baumgarten H, Mulvey C, Isaza A, Bhatti T, Mostoufi-Moab S, Kazahaya K, Bauer AJ, Adzick NS: Bilateral papillary thyroid cancer in children: Risk factors and frequency of post-operative diagnosis. American Academy of Pediatrics, Section on Surgery, annual meeting, October 2019, New Orleans, LA Oct 2019 Notes: Oral Platform presentation, Rosenkrantz competition.

- Lin F, Surrey L, Wertheim G, Luo M, Zhao X, Cao K, Aplenc R, Bagatell R, Bauer AJ, Bhatti T, MacFarland S, Maris J, Mosse Y, Resnick A, Santi M, Storm P, Tasian S, Waanders A, Hunger S, Li M: Driver fusions identified in 1,327 pediatric tumors and their implication in tumorigenesis and precision cancer care. American Society of Human Genetics annual meeting, Houston Texas October 2019 Notes: Platform Presentation.

Books:
1. Bauer AJ, Bruder JM, Dalkin AC, Findling JW, Gafni RI, Lekarev O, Pelley EM, Pesce LM, Silverman LA, Tannock LR, Welt CK, Young WF: Endocrine Self-Assessment Program; Special Edition, Historical Perspectives for Today's Clinician. The Endocrine Society. The Endocrine Society, Washington, D.C. 2016.

2. Bauer AJ, DeBoer M, Boyce AM, Habiby RL, Lakarev O, Miller B, Palma-Sisto PA, Pesce LM, Silverman L, Thornton PS, and Gafni R : Pediatric Endocrine Self Assessment Program; 2017-2018. The Endocrine Society. The Endocrine Society, Washington, D.C. 2017.

3. Bauer AJ, DeBoer M, Boyce AM, Habiby RL, Lakarev O, Miller B, Palma-Sisto PA, Pesce LM, Silverman L, Thornton PS, and Gafni R : Pediatric Endocrine Self-Assessment Program; 2018-2019. The Endocrine Society. The Endocrine Society, Washington, D.C. 2018.

4. Bauer AJ, DeBoer M, Boyce AM, Demirci CS, Escobar O, Habiby RL, Lakarev O, Miller B, Miller RS, Newfield R, Pesce LM, Raman S, Silverman L, Thornton PS, and Gafni R : Pediatric Endocrine Self-Assessment Program; 2019-2020. The Endocrine Society. The Endocrine Society, Washington, D.C. 2019.


X
  • Andrew Sng, Singapore
Affiliation
Khoo Teck Puat – National University Children’s Medical Institute National University Health System
Session
[Symposium 8: Neonatal Endocrinology] Oct. 8, 2022 (Sat.) 14:15-15:45 - Speaker
Topic
Neonatal Diabetes Insipidus: Challenges in Diagnosis and Management
Biography
APPOINTMENTS
1. Director of Clinical Services, Department of Paediatrics (May 2022 - present)
2. Paediatrics PostGraduate Year 1 (PGY1) Core Faculty (2017-Present)
3. Director of Informatics, Department of Paediatrics (2015-Present)
4. NGEMR Paediatrics Clinical Lead (2018-Present)
5. Deputy Director of Clinical Services, Department of Paediatrics (1 Oct 2019 - April 2022)
6. Director of Children’s Service at NTFGH (1 Oct 2019 - Present)
7. Member of Quality Assurance Committee (QAC), NUH (Nov 2019-Present)
8. Member of Hospital Smart Pump Workgroup (Jan 2020- Present)

PREVIOUS APPOINTMENTS
1. Chief Registrar for Paediatrics, National University Health System (NUHS) (2015-2016)
2. Chief Resident for Paediatrics, National University Health System (NUHS) (2013-2014)
3. Patient Safety Officer, Department of Paediatrics (1 Oct 2019 to 30 Sep 2020)

WORK EXPERIENCE
1. Paediatrics, National University Hospital (July 2011-Present)
2. Medical Officer Singapore Armed Forces HQ Army Medical Services (Nov 2009 – July 2011)
3. Medical Officer, Geriatric Medicine, Tan Tock Seng Hospital (May – Oct 2009)
4. House Officer, General Medicine, Tan Tock Seng Hospital (May – Aug 2008)
5. Houser Officer, Paediatrics, National University Hospital: (Sep – Dec 2008)
6. House Officer, General Surgery, Tan Tock Seng Hospital (Jan – Apr 2009)

TRAINEESHIP
1. NUHS Paediatric Residency (July 2011-June 2017)
2. NUHS Senior Residency, Paediatric Endocrinology (July 2014-June 2017)

PROFESSIONAL DEVELOPMENT
1. Specialist Accreditation, Paediatrics (28/07/2017 - Present)
2. MRCPCH/Master of Medicine (Paediatrics) May 2013
3. Bachelor of Medicine and Surgery (M.B.B.S) Yong Loo Lin School of Medicine, National University
of Singapore, Awarded Dean’s List)
4. Paediatric Advanced Life Support (Recertification) (2016)
5. Neonatal Resuscitation Course (Recertification) (2015)
6. Physician Leadership Development Programme (2020)

AWARDS
1. NUS Medicine 2021 Special Recognition Award
2. Paediatric Department Great Teacher Award 2015 (Interactive)
3. Paediatric Department Great Teacher Award 2016 (Interactive)
4. Paediatric Department Great Teacher Award 2017 (Interactive)
5. Paediatric Department Great Teacher Award 2018 (Interactive)
6. Paediatric Department Great Teacher Award 2019 (Interactive)
7. Paediatric Department Good Teacher Award 2020 (Interactive)
8. Paediatric Department Great Teacher Award 2021 (Interactive)
9. NUHS Young Clinician Mentor Award, 2017
10. Best Registrar, Department of Paediatrics 2015
11. Benjamin Chew Medal for Medical Ethics, 2007 Yong Loo Lin School of Medicine, National
University of Singapore

PUBLICATIONS
1. Ooi DSQ, Ong SG, Lee OMH, Chan YH, Lim YY, Ho CWL, Tay V, Vijaya K, Loke KY, Sng AA, Lee YS.
Prevalence and predictors of metabolically healthy obesity in severely obese Asian children.
Pediatr Res. 2022 Feb 7. doi: 10.1038/s41390-022-01941-z. Epub ahead of print. PMID:
35132129.

2. Andrew Sng, Yvonne Peng Mei Ng, Zubair Amin, Prolonged Neonatal Jaundice with Umbilical
Hernia: A Cause Not to be Missed, Pediatrics & Neonatology, 2022, ISSN 1875-9572,
https://doi.org/10.1016/j.pedneo.2021.12.004.

3. Lu L, Koh CT, Lim YH, Sng A, Poon KS, Tan SSY, Kao PT, Tee N, Yap HK, Lee BW, Tambyah PA. Role of
Asymptomatic Children in Community Severe Acute Respiratory Syndrome Coronavirus 2
Transmission. J Infect Dis. 2021 May 28;223(10):1834-1836. doi: 10.1093/infdis/jiab138. PMID:
33728456; PMCID: PMC7989340.

4. Ooi DSQ, Dorajoo R, Gurung RL, Dehghan R, Lim YY, Ho CWL, Tay V, Karuppiah V, Loke KY, Lim SC,
Liu JJ, Sng AA, Lee YS. Association of leukocyte telomere length with obesity-related traits in
Asian children with early-onset obesity. Pediatr Obes. 2021 Aug;16(8):e12771. doi:
10.1111/ijpo.12771. Epub 2021 Jan 26. PMID: 33501739.

5. KY Loke, N Ng, A Sng, YM Teo, J Lin: An unexpected revelation in a child with recurrent severe
headaches, Journal of Paediatrics and Child Health (2020). doi:10.1111/jpc.15261

6. Chan, S.M., Chiong, T., Chhabra, M., Koh, C.T., Wong, Y.L., Sng, A.A. and Ong, H.T. (2020), Early
Challenges in isolation and de-isolation of children during the severe acute respiratory syndrome
coronavirus-2 pandemic. J Paediatr Child Health, 56: 997-998. doi:10.1111/jpc.14962

7. Poon KS, Tan KM, Koay ES, Sng A. Genetic testing of GCK-MODY identifies a novel pathogenic
variant in a Chinese boy with early onset hyperglycemia. Hum Genome Var. 2020;7:7. Published
2020 Mar 30. doi:10.1038/s41439-020-0096-0

8. Delicia Shu Qin Ooi, Kah Yin Loke, Cindy Wei Li Ho, Yvonne Yijuan Lim , Veronica Tay , Vijaya K,
Andrew Anjian Sng,, Lai Yousheng Lester,, Yung Seng Lee,, Konstadina Griva: Self and
parent-proxy rated health-related quality of life (HRQoL) in youth with obesity: are parents good
surrogates?. Qual Life Res (2020).

9. Jeremy B Lin, Andrew A Sng, Furene S Wang, Ai Peng Tan & Velda X Han (2019): Acute
hemichorea in a young type 1 diabetic, International Journal of Neuroscience, DOI:
10.1080/00207454.2019.1702540

10. Andrew Sng, Loke KY and Lim Y. A Case of Neonatal Central Diabetes Insipidus in a Premature
Infant - Challenges in Diagnosis and Management. Case Rep J. 2018;2(1):010

11. Loke KY, Anjian AS, Yijuan YL, Ho Wei Li C, Güemes M, Hussain K. Sirolimus therapy in a child
with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia. Endocrinology, Diabetes &
Metabolism Case Reports. 2016;2016:16-0043. doi:10.1530/EDM-16-0043.

12. Poon KS, Sng AA, Ho CW, Koay ES-C, Loke KY. Genetic Testing Confirmed the Early Diagnosis of
X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant. Journal of Investigative Medicine
High Impact Case Reports. 2015;3(3):2324709615598167. doi:10.1177/2324709615598167.

13. Lim YY, Ong L, Loh TP, Sethi SK, Sng AAJ, Loke KY, Halsall DJ, Hughes IA, Lee YS. A diagnostic
curiosity of isolated androstenedione elevation due to autoantibodies against horseradish
peroxidase label of the immunoassay. Clin Chim Acta. 2018 Jan;476:103-106. doi:
10.1016/j.cca.2017.11.025. Epub 2017 Nov 23.

14. A Case of Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT)
in a Girl with Newly Diagnosed Hashimoto Thyroiditis. Lim YY, Sng AA, Ho CW-L, Lee Y-S, Loke K-Y.
HORMONE RESEARCH IN PAEDIATRICS. KARGER. 90: 636-636. 01 Jan 2018.

ORAL PRESENTATIONS
1. APPES Biennial Scientific Meeting. Kaichi Kida Oral Session Nov 26, 2021: Novel anthropometric
indices to predict adverse metabolic health in severely obese Asian children
2. Speaker: Wong Hock Boon Paediatric Masterclass Webinar CORONAVIRUS DISEASE 2019: A
Paediatric Perspective: Paediatric Pandemic Preparedness And Workflows: The KTP-NUCMI
Experience
3. APPES Biennial Scientific Meeting. Kaichi Kida Oral Session Nov 8, 2018. The role of peripheral
blood mononuclear cell (PBMC) immune response between metabolically healthy and unhealthy
obese children in a prospective cohort study.
4. NUHS Innovation Summit 2019 6-7 September.: Reducing the Cost and Practice Variability in the
Inpatient Management of Bronchiolitis - Winner (3rd prize) for Oral Presentation

POSTER PRESENTATIONS
1. An unusual presentation of monogenic diabetes mellitus in Turner syndrome -
(AS-ISPAD-2021-00007). 47th Annual Conference of the International Society for Pediatric and
Adolescent Diabetes October 13 - 16, 2021.
2. Paediatric Society of New Zealand 71st Annual Scientific Meeting 2019 (20 November to 22
November 2019). Hypertension in a Preschooler with ADHD
3. International Diabetes Federation Congress 2019. Comparison of metabolic phenotype of two
Singaporean obese cohorts 15 years apart. 15 Nov 2019
4. 58th Annual European Society for Paediatric Endocrinology in Vienna 19-21 Sep 2019: Metabolic
Complications after Paediatric LIver Transplantation: A 10 year Longitudinal Study in a South East
Asian Population
5. Singapore Health and Biomedical Congress 10 & 11 Oct 2019: Reducing the Cost and Practice
Variability in the Inpatient Management of Bronchiolitis
6. 8
th Singapore Paediatric and Perinatal Annual Congress (SiPPAC) 2019: Utility and cost
effectiveness of the exercise stimulation test compared with the glucagon stimulation test in the
diagnosis of growth hormone deficiency (GHD) in childhood
7. MOH VDC Conference 2019 (24-25 September 2019): Reducing the Cost and Practice Variability
in the Inpatient Management of Bronchiolitis.
8. IDF 2019 Busan, Korea. 2-6 December. Comparison of metabolic phenotype of two Singaporean
obese cohorts 15 years apart-has anything changed? Dr. Cindy Ho, Dr. Delicia, Shu Qin Ooi , Dr.
Kah Yin Loke, Dr. Yvonne Lim, Dr. Andrew Sng, Dr. Vijaya K, Dr. Veronica Tay, Prof. Yung Seng Lee.
9. 44
th Annual Conference of the International Society for Pediatric and Adolescent Diabetes.
Hyderabad, India. October 11 – 14, 2018. “An unusual presentation of monogenic diabetes
mellitus in a girl with Turner syndrome”
10. Asia Pacific Medical Education Conference 2019: The Effects of an intensive orientation course
on stress, perceived difficulties and confidence levels in postgraduate year 1 doctors starting a
paediatric posting in a tertiary hospital.. Tan MY, Sng A, Lin J, Queh SY
11. 57th Annual European Society for Paediatric Endocrinology in Athens, Greece 27 - 29 September
2018. Oral Poster Presentation. “A Curious Case of Persistent Lactic Acidosis in a Child with
Diabetic Ketoacidosis”
12. 57th Annual European Society for Paediatric Endocrinology in Athens, Greece 27 - 29 September
2018. Oral Poster Presentation. “A Young Type 1 Diabetic with Acute Hemichorea: Rare central
nervous system complications”
13. 57th Annual European Society for Paediatric Endocrinology in Athens, Greece 27 - 29 September
2018. Oral Poster Presentation. ”High Fibroblast Growth Factor (FGF) 23: An Unusual Cause of
Severe Osteoporosis in a Patient with Chronic Liver Disease”
14. 5th Singapore Paediatric and Perinatal Annual Congress (SiPPAC) 2016. “An Infant with Cushing
Syndrome”
15. The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES). “A
Case of Neonatal Central Diabetes Insipidus in a Premature Infant - Challenges in Diagnosis and
Management”
16. 54th Annual Meeting of the European Society for Paediatric Endocrinology, Barcelona. Poster
Presentation. “Gigantism Secondary to Growth Hormone Secreting Pituitary Macroadenoma”
17. 4rd Singapore Paediatric and Perinatal Annual Congress (SIPPAC) - “Severe Hypercalcemia in an
infant with Rhabdoid Tumour of the Kidney”
18. 7th GRS-IGF Singapore 2014 Case Report “Growth Hormone Therapy in a Child with Kearns Sayre
Syndrome and Chronic Kidney Disease”
19. APPES Scientific Meeting 2014 “Pamidronate Therapy for Hypercalcemia of Childhood
Malignancy”
20. 3rd Singapore Paediatric and Perinatal Annual Congress (SIPPAC) - “Hypocalcemic seizures in an
infant secondary to maternal vitamin D deficiency”
21. 10th Asia Pacific Medical Education Conference “Clinical Handover in Paediatrics”
22. 11th Asia Pacific Medical Education Conference "Sleep Deprivation And Fatigue Among
Paediatric Residents – Efficacy Of A Fatigue Management Workshop”
23. 11th Asia Pacific Medical Education Conference “Sleep Deprivation And Fatigue Among
Paediatric Residents & Faculty”

RESEARCH EXPERIENCE
1. Co-I: DSRB 2017/01127: Developmental Programming of Chronic Kidney Disease-Natural History
and Predictive Biomarkers
2. Co-I: DSRB 2020/00510: Pictorial Review of Pituitary Disorders in a Paediatric Population
3. Co-I: DSRB 2020/00531: Transitioning Youth with Chronic Disease: Perspectives of Patients,
Parents, Paediatricians
4. Co-I: DSRB 2020/00699: Evaluating the impact of COVID19 and circuit breaker among paediatric
population with Diabetes Mellitus or overweight/obesity issue
5. Co-I: DSRB 2020/01080: Study on the utility of app-based calculator to reduce medication errors
and improve confidence levels for healthcare workers looking after paediatric patients
6. Co-I: DSRB 2021/00034: Exploration of women’s experiences and technology usage before,
during, and after pregnancy in Singapore.
7. PI: Utility and cost effectiveness of the exercise stimulation test compared with the glucagon
stimulation test in the diagnosis of growth hormone deficiency (GHD) in childhood (DSRB
Approval May 2019)
8. PI: Perception of adolescents and their parents, and their doctors of the need to see their
doctors alone, and perceived optimal age for transition to care at an adult clinic. (DSRB approval
May 2016)
9. PI: KTP-NUCMI Research Grant (S25000). Metabolically unhealthy obese children have
exaggerated inflammatory peripheral blood mononuclear cellular response to hyperinsulinemia.
Aug 2016 - Aug 2018
10. Collaborator. NUHS Allied Health and Nursing Grant: Development of molecular NGS-based and
MLPA assays to improve the diagnostic sensitivity and accuracy of genetic tests for patients with
X-linked Hypophosphatemic Rickets (XLHR). PI: Prof Loke KY, Prof Evelyn Koay
11. Co-Investigator. Whole-exome sequencing to identify genetic variants associated with severe
childhood obesity, and tracking the changing prevalence of obesity related complications. PI:
A/Prof Lee YS
12. Co-Investigator. Easypod Connect: A Multinational Multicenter, Observational study to evaluate
Adherence and long term outcomes of therapy in Paediatric subjects using "easypod
TM
"
electromechanical device for growth hormone treatment. PI: A/Prof Loke KY
13. PI: Community Health Project (CHP) Community Study “Prevalence of Urinary Incontinence in
the Singapore community ”, Academic Year 05/06 (Presented at Singapore Urology Conference
2007)


X
  • Angela Titmuss, Australia
Affiliation
Charles Darwin University
Session
[Symposium 7: Nutrition, Obesity & Type 2 DM] Oct. 8, 2022 (Sat.) 11:45-13:15 - Speaker
Topic
Intergenerational Effects of GDM and T2D
Biography
Angela Therese Titmuss

POSITION TITLE
Paediatric Endocrinologist, Royal Darwin Hospital
Senior Research Officer, Menzies School of Health Research

EDUCATION/TRAINING
2000-2003 University of New South Wales B Sci (Med) (Hons 1) (Medicine)
2004-2007 University of New South Wales MBBS (Hons 1) (Medicine)
2004-2007 University of New South Wales MPH (Public Health)
2015 Royal Australasian College of Physicians FRACP
(General Paediatrics / Paediatric Endocrinology)
Submitted 2022 Charles Darwin University PhD in progress
(Paediatrics/ Endocrinology)

2008 Intern, Alice Springs Hospital
2009 Resident Medical Officer, Alice Springs Hospital
2010 Paediatric SRMO, St George Hospital (6 months)
2010 Paediatric Registrar, Alice Springs Hospital
2011-2012 Paediatric Registrar, Sydney Children’s Hospital
2013 Deputy Chief Resident Medical Officer, Sydney Children’s Hospital
2013 Community Child Health Fellow, Sydney Children’s Hospital
2015-2016 Deputy Chief Resident Medical Officer, The Children’s Hospital at Westmead
2014-2016 Paediatric Endocrine Fellow, The Children’s Hospital at Westmead
2016-2017 Paediatric Endocrinologist, St George Hospital
2016-present PhD Student, Menzies School of Health Research – 2016-present (thesis submitted and under
examination)
2020-present Senior Research Officer, Youth Diabetes, Menzies School of Health Research (0.3 FTE)
2017-present Paediatric Endocrinologist, Royal Darwin Hospital (0.6 FTE)

Honors:
2019 Finalist, Emerging Investigator Award, Australasian Paediatric Endocrine Group (APEG)
2019 Nominated for NT Health Excellence Award
2019 Nominated for Children’s Healthcare Australasia Medal of Distinction
2019 Winner (as co-lead of RDH Paediatric Diabetes team) of 2019 Top End Health Service, Service Excellence and
Innovation Awards
2019 Hot North PhD Completion Scholarship
2016-2018 National Health and Medical Research Council Postgraduate Scholarship
2016-2018 RACP NHMRC Award for Excellence Woolcock Scholarship
2016 The Children’s Hospital at Westmead Gold Kilham Award for ‘Overall Outstanding Commitment to Teaching by an
Individual’
2016 Travel Grant to attend International Society for Pediatric and Adolescent Diabetes Science School, Norway
2015 RACP NSW Trainee Research Award for Excellence
2008 John Hirshmann Public Health Prize for highest aggregate in University of NSW Master of Public Health
2008 UNSW Bruce Hawkins Memorial Prize
2008 UNSW Alumni Graduand Award
2007 Westpac Rural Doctors’ Association of Australia Medical Student of the Year Award

Memberships
2022 Co-chair, Australasian Paediatric Endocrine Group (APEG) Type 2 Diabetes Working Group
2022 Chair, Top End Youth Diabetes Working Group
2016-present Deputy Chair, Royal Australasian College of Physicians Aboriginal and Torres Strait Islander Health
Committee
2018-present Member, Northern Territory Diabetes Network
2016-present Australian Institute of Health and Welfare/ APEG Type 1 Diabetes in Young People Registry group
2021 Member, Expert Advisory Group - School Aged Children and Youth, for Remote Primary Health Care
Manuals
2020-2021 Member, Youth Type 2 Diabetes Resource Development Working Group, Diabetes across the Lifecourse: Northern Australia Partnership
2019-2021 Member, APEG Differences in Sex Development Committee

Research Grants:
• Principal Investigator, ‘Assessment of the impact of maternal diabetes on growth and cardio-metabolic risk factors of pre-school aged children living in Central Australia’, Diabetes Australia Research Program grant 2016 ($60 000)
Titmuss A, Maple-Brown L, Srinivasan S, Craig M, Skilton M, Ward L, Brown A
• Principal investigator, ‘PANDORA Cohort Wave 1 – assessment of the impact of maternal diabetes on child development’, Channel 7 Children’s Research Foundation grant 2016 ($35 000)
Titmuss A, Maple-Brown L, Craig M, D’Aprano A, Brown A, O’Dea K
• Associate Investigator, Pregnancy and Neonatal Diabetes Outcomes in Remote Australia (PANDORA) Wave 2 (NHMRC #1156726) $2 970 280
(Principal Investigators – Maple-Brown L, Connors C, D’Antoine H, McCarthy L, Davis E, Wicklow B, Barzi F, Corpus S, Moore E, McIntyre H)
• Associate Investigator, Improving models of care for Central Australian youth with obesity and/or diabetes (Central Australia Academic Health Science Centre) $290 537
(Principal Investigators - Maple-Brown L, McCarthy L, Kirkham R)
• Associate Investigator, A life course approach to reduce intergenerational diabetes risk in remote Northern Australia through improved systems of care and consumer engagement (NHMRC #1199628) $293 325 (Principal Investigators - Maple-Brown L, Connors C, McCarthy L, Oats J, Corpus S, McLean A, McIntyre H, Canuto K, Kirkham R, Shaw J)
• Investigator, Co-design of youth-friendly, culturally appropriate models of care with Aboriginal and Torres Strait Islander Children and Youth with type 2 diabetes (Australian Government) $3 870 000
(Chief Investigators - Maple-Brown L, Kirkham R)

Research Contributions and Impact
Angela Titmuss is a paediatric endocrinologist at Royal Darwin Hospital and works as a clinician-researcher at Menzies School
of Health Research. She is the only paediatric endocrinologist within the Northern Territory and undertakes remote outreach
across the region. She has been the lead paediatric researcher on a study involving Aboriginal and Torres Strait Islander
children and youth with type 2 diabetes since its inception, including leading the audit of prevalence across northern Australia
(Kimberley, NT, Far North Queensland). This included leading study design, ethics submission, community consultation, data
collection, data analysis, data interpretation and community feedback. She was also the lead paediatric researcher on the
Pregnancy And Neonatal Diabetes Outcomes in Remote Australia (PANDORA) Wave 1 study since its inception, including
initiating and designing sub-studies related to developmental and behavioural risk assessment. These studies were part of her
PhD which is currently under examination. She has formed very good working relationships with key Aboriginal and Torres
Strait Islander health organisations across northern Australia since commencing at Menzies, is committed to Aboriginal and
Torres Strait Islander capacity building and her research involves multiple Aboriginal and/or Torres Strait Islander co-authors.
She is co-chair of the Australasian Paediatric Endocrine Group type 2 diabetes working group, with research collaborations
across Australia regarding youth-onset type 2 diabetes, and also chairs the Top End Youth Diabetes Working Group.

B. Selected peer-reviewed publications (in chronological order; do not exceed 2 pages). List the title and complete reference to all publications during the past three years and to representative earlier publications pertinent to this application. Do not include publications submitted or in preparation.

Past 3 years
1. Titmuss A, Davis E, O’Donnell V, Wenitong M, Barr E, Boffa J, Brown ADH, Connors C, Corpus S, Dowler J, Graham S, Griffiths E, Kirkham R, Lee C, Moore E, Pearson G, Shaw JE, Singleton S, Sinha A, White G, Zimmet P, Maple-Brown LJ*, Haynes A*. Prevalence of youth-onset type 2 diabetes among First Nations young people in northern Australia: a retrospective, cross-sectional study. The Lancet Diabetes and Endocrinology, 2022; 10(1):11-13. https://doi.org/10.1016/S2213-8587(21)00286-2 (* authors contributed equally)

2. Titmuss A, D’Aprano A, Barzi F, Barr ELM, Wood A, Connors C, Boyle JA, Moore E, O’Dea K, Oats J, McIntyre HD, Zimmet P, Brown ADH, Shaw JE, Craig ME, Maple-Brown LJ. Hyperglycaemia in pregnancy and developmental outcomes in children at 18-60 months of age: the PANDORA Wave 1 study. Journal of Developmental Origins of Health and Disease. Published online 4 April 2022. https://doi.org/10.1017/S2040174422000101

3. Titmuss A*, Longmore D*, Barzi F, Barr ELM, Webster V, Wood A, Connors C, Boyle JA, Moore E, O’Dea K, Oats J, McIntyre HD, Zimmet P, Brown A, Shaw JE, Craig ME, Maple-Brown LJ. The impact of hyperglycaemia in pregnancy on the growth of offspring in early childhood: The PANDORA study. Pediatric Obesity. Published online 30 May 2022. https://doi.org/10.1111/ijpo.12932 (*authors contributed equally)

4. Longmore D*, Titmuss A*, Barr ELM, Barzi F, Simmonds A, Lee IL, Hawthorne E, Derkenne R, Connors C, Boyle JA, Zimmet P, O’Dea K, Oats J, McIntyre HD, Brown ADH, Shaw JE, Maple-Brown LJ. Breastfeeding and infant growth in offspring of mothers with hyperglycaemia in pregnancy: the PANDORA study. Pediatric Obesity, published online 20 February 2022. http://doi.org/10.1111/ijpo.12891 (*authors contributed equally)

5. Weaver E, Freeman N, Mack S, Titmuss A, Dowler J, Corpus S, Hyatt T, Ellis E, Sanderson C, Connors C, Moore E, Silver B, Azzopardi P, Maple-Brown L, Kirkham R. I don’t really know what diabetes is: A qualitative study exploring the experiences of Aboriginal and Torres Strait Islander young people aged 10-25 years living with type 2 diabetes in northern and central Australia. Canadian Journal of Diabetes, published online 5 May 2022.
https://doi.org/10.1016/j.jcjd.2022.04.010

6. Simpson S, Eadie T, Toon Knoo S, Titmuss A, Maple-Brown L, Thompson R, Wunungmurra A, Jeyaseelan D, Dunham M, D’Aprano A. The ASQ-TRAK: Validating a culturally adapted developmental screening tool for Australian Aboriginal children. Early Human Development, 2021; 163: 105481. https://doi.org/10.1016/j.earlhumdev.2021.105481

7. Wood A, Boyle JA, Barr ELM, Barzi F, Hare M, Titmuss A, Death E, Kelaart J, Kirkwood M, Simmonds A, Graham S, Hampton V, Connors C, Moore E, O’Dea K, Oats J, McIntyre HD, Zimmet P, Lu ZX, Brown ADH, Shaw JE, Maple-Brown LJ. Progression to type 2 diabetes in women with and without gestational diabetes: the PANDORA Wave 1 study. Diabetes Research and Clinical Practice, 2021; 181:109092. https://doi.org/10.1016/j.diabres.2021.109092

8. Musthaffa Y, Papadimos E, Fairchild J, Titmuss A, Corpus S, Junyh T, Conwell LS. Challenges of managing Congenital Hyperinsulinism in remote Aboriginal Australian communities. 2021; 57(5):727-731. J Paediatrics and Child Health. https://doi.org/10.1111/jpc.14984

9. Pena AS, Curran JA, Fuery M, George C, Jefferies CA, Lobley K, Ludwig K, Maguire A, Papadimos E, Peters A, Sellars F, Speight J, Titmuss A, Wilson D, Wong J, Worth C, Dahiya R. Australasian Guidelines for screening, assessment and management of type 2 diabetes mellitus in children and adolescents: APEG Position Statement. Medical Journal of Australia. 2020 Jul; 213(1):30-43. http://dx.doi.org/10.5694/mja2.50666

10. Haynes A, Bulsara MK, Bergman P, Cameron F, Couper J, Craig ME, Demangone K, Johnson S, Lafferty A, Titmuss A, Davis EA. Incidence of type 1 diabetes in 0 to 14 year olds in Australia from 2002 to 2017. Pediatric Diabetes. 2020; 21(5):707-712. https://doi.org/10.1111/pedi.13025 .

11. Titmuss A, Davis EA, Brown A, Maple-Brown LJ. Emerging diabetes and metabolic conditions among Aboriginal and Torres Strait Islander young people. The Medical Journal of Australia. 2019; 210(3):111-3.e1. https://doi.org/10.5694/mja2.13002



Pertinent previous publications

1. Lee IL, Purbrick B, Barzi F, Brown A, Connors C, Whitbread C, Moore E, Kirkwood M, Simmonds A, van Dokkum P, Death E, Svenson S, Graham S, Hampton V, Kelaart J, Longmore D, Titmuss A, Boyle J, Brimblecombe J, Saffery R, D'Aprano A, Skilton MR, Ward LC, Corpus S, Chitturi S, Thomas S, Eades S, Inglis C, Dempsey K, Dowden M, Lynch M, Oats J, McIntyre HD, Zimmet P, O'Dea K, Shaw JE, Maple-Brown LJ; PANDORA Study research team. Cohort Profile: The Pregnancy and Neonatal Diabetes Outcomes in Remote Australia (PANDORA) Study. Int J Epidemiol. 2018 Aug 1;47(4):1045-1046. https://doi.org/10.1093/ije/dyy046

2. Titmuss AT, Srinivasan S. Metabolic Syndrome in children and adolescents: old concepts in a young population. Journal of Paediatrics and Child Health; 2016, 52(10):928-934. https://doi.org/10.1111/jpc.13190

3. Jersky, M., Titmuss, A., Haswell, M., Freeman, N., Osborne, P., Callaghan, L., Winters, J., Fitzpatrick, S., Zwi, K. 2015. Improving health service access and well-being of young Aboriginal parents in an urban setting: mixed methods evaluation of an arts-based program. Australian and New Zealand Journal of Public Health, 2016 Apr; 40 Suppl 1:S115-21, DOI: 10.1111/1753-6405.12448


X
  • Anita C. S. Hokken-Koelega, Netherlands
Affiliation
Erasmus MC Sophia Children's Hospotal
Session
[Symposium 1: Growth] Oct. 6, 2022 (Thu.) 13:00-14:30 - Speaker
Topic
SGA
Biography
Bibliography Professor Anita C. S. Hokken-Koelega

Professor Hokken-Koelega is pediatric-endocrinologist in the Erasmus University Medical Center, Rotterdam, The Netherlands. She supervises endocrine research and large multicenter trials in The Netherlands and EU, and is director of the Dutch Growth Research Foundation. She is head of the Dutch Expert Center for Prader-Willi Syndrome/Prader-Willi Like. Professor Hokken-Koelega is the Secretary-General of the European Society for Paediatric Endocrinology (ESPE) from September 2019.
Her research focuses on developmental origins of adult health and disease, (rare) growth disorders, and the efficacy and long-term safety of GH treatment, with special attention for children and adults born SGA, with Silver-Russell Syndrome and Prader–Willi syndrome. She is involved in development of advanced growth-prediction models and growth charts (Growth Analyser software programs) and has published approx. 400 scientific papers in peer-reviewed journals. She received multiple awards, such as the ASPASIA Award (Netherlands Organisation for Health Research and Development), Dutch Endocrinology Award (Dutch Endocrine Society), European Society Pediatric Endocrinology (ESPE) Research Award, Angel Award (Dutch Patient Organisations) and is awarded Officer in the Order of Orange-Nassau of the King.


X
  • Anu Bashamboo, France
Session
[Symposium 3: Adrenal/DSD] Oct. 6, 2022 (Thu.) 15:45-17:15 - Speaker
Topic
Genetic Basis of DSD
Biography
With a background in Clinical genetics and Stem cell biology, Anu Bashamboo is a senior group leader in the Unit of Human Developmental Genetics at the Institut Pasteur, Paris. Her group aims to understand the mechanism governing cell fate choice during human gonad development using a two-pronged approach. First involves using next generation sequencing and in-vitro tools to define novel genetic and epigenetic anomalies and pathways associated with atypical development and function of the testis. The second approach is to use human induced pluripotent stem cells to derive testicular organoids in order to understand the cell fate choice during development of the human reproductive system. In recent years, her group has identified the largest number of new genes and mechanisms involved in human Disorders of Sex Development (DSD) and infertility and published over 100 peer reviewed papers, invited reviews and book chapters including in NEJM, AJHG, PNAS, JCEM, NMSB, HMG, etc. She is the author of a number of text-book chapters including in Brook's Clinical Pediatric Endocrinology and has edited a book on male infertility. Anu is the editor in chief of the Karger Journal Sexual development. She serves as scientific advisor on the select French Parliamentary committee on reproductive disease. For her work she has received several national and international awards including those from Endocrine society of USA, Royan International award for Reproductive genetics, Prix Jayle for Reproductive biology from the French Academy of Sciences and Henin-Anderson award from the European Society of Pediatric Endocrinology.


X
  • Chong Kun Cheon, South Korea
Affiliation
Pusan National University Children’s Hospital
Session
[Symposium 1: Growth] Oct. 6, 2022 (Thu.) 13:00-14:30 - Speaker
Topic
Genetic Approach to the Evaluation of Short Stature of Undetermined Etiology
Biography
Education:
University of Kosin College of Medicine, Busan, Korea
University of Yonsei College of Medicine (Master's degree), Seoul, Korea
University of Ulsan College of Medicine (Ph. D), Seoul, Korea

Clinical and Research training:
2004-2009 Residency in Pediatrics and Clinical fellow in Pediatric Endocrinology. University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
2009-2014 Assistant professor in Pediatric Endocrinology, Pusan National University Children's Hospital, Yangsan, Korea
2014-2016 Research fellow in Pediatrics, Baylor College of Medicine, Houston, USA
2016-2021 Associate professor in Division of Pediatric Endocrinology, Dept. of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea
2021-2022 Professor in Division of Pediatric Endocrinology, Dept. of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea
2019-2022 Director of Rare disease center, Pusan National University, Yangsan Hosptial, Yangsan, Korea

Board certifications:
Korean Board of Pediatrics (since 2008)
Korean Board of Medical Genetics (since 2011)
Korean Board of Pediatric Endocrinology (since 2010)

Affiliations:
Member of Asia Pacific Pediatric Endocrine Society (APPES)
Director of the Medical Insurance Committee, Korean Society of Pediatric Endocrinology (since 2020)
Publication director, Korean Society of Medical Genetics and Genomics (since 2022)

Publications
1. Lee S, Yoo S, Yoon JY, Cheon CK, Kim YA. Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes. Ann Pediatr Endocrinol Metab. 2022 Jan 17.
2. Yoon JY, Cheon CK, Lee JH, Kwak MJ, Kim HJ, Kim YJ, Lee JE, Chung WY, Kim J, Yoo JH. Response to growth hormone according to the growth hormone provocation test results in idiopathic short stature and idiopathic growth hormone deficiency. Ann Pediatr Endocrinol Metab. 2022 Jan 17
3. Cheon CK. Commentary on "Effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys with idiopathic central precocious puberty". Ann Pediatr Endocrinol Metab. 2021 Dec;26(4):215-216.
4. Kamil G, Yoon JY, Yoo S, Cheon CK. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet J Rare Dis. 2021 Jul 3;16(1):297.
5. Cheon CK, Lee YJ, Yoo S, Lee JH, Lee JE, Kim HJ, Choi IJ, Choi Y, Lee S, Yoon JY. Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea. J Pediatr Endocrinol Metab. 2020 Oct 8;33(12):1539-1550
6. Lee JY, Lee JH, Cheon CK. Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models. Int J Mol Sci. 2020 Sep 29;21(19):7209
7. Yoon JY, Cheon CK. Genotype and clinical outcomes in children with congenital adrenal hyperplasia. Pediatr Int. 2021 Jun;63(6):658-663. doi: 10.1111/ped.14478. Epub 2021 Apr 11
8. Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH. Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome. Ann Pediatr Endocrinol Metab. 2020 Mar;25(1):52-56.
9. Yoon JY, Cheon CK. Evaluation and management of amenorrhea related to congenital sex hormonal disorders. Ann Pediatr Endocrinol Metab. 2019 Sep;24(3):149-157
10. Jo KJ, Kim YM, Yoon JY, Lee YJ, Han YM, Yoo HW, Kim HS, Cheon CK. Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. Korean J Pediatr. 2019 Jul;62(7):274-280
11. Cheon CK. Understanding of type 1 diabetes mellitus: what we know and where we go. Korean J Pediatr. 2018 Oct;61(10):307-314.
12. Cheon CK. Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated. J Korean Med Sci. 2017 Oct;32(10):1561-1562.
13. Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. Clin Genet. 2017 Dec;92(6):594-605.
14. Lee JE, Kim SY, Yoo JH, Hwang IT, Lim JS, Yi KH, Rhie YJ, Lee GM, Nam HK, Chae HW, Kim EY, Cheon CK, Lee J, Shim YS, Lee Y, Kim EY, Hwang JS. Ease of Use, Preference, and Safety of the Recombinant Human Growth Hormone Disposable Pen Compared with the Reusable Device: A Multicenter, Single-Arm, Open-Label, Switch-Over, Prospective, Phase IV Trial. Patient Prefer Adherence. 2019;13:2195-2205.
15. Song JY, Mun SJ, Sung SK, Hwang JY, Baik SK, Kim JY, Cheon CK, Kim SY, Kim YM. A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture. Ann Pediatr Endocrinol Metab. 2017;22(3):197-202.
16. Cheon CK. Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome. Ann Pediatr Endocrinol Metab. 2016;21(3):126-135
17. Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW. Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism. Clin Endocrinol (Oxf). 2015;83(6):790-6
18. Cheon CK, Nam HK, Lee KH, Kim SY, Song JS, Kim C. Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population. Pediatr Int. 2015;57(5):870-4.
19. Kim YJ, Cheon CK. Prader-Willi syndrome: a single center's experience in Korea. Korean J Pediatr. 2014;57(7):310-6
20. Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW. A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature. Ann Pediatr Endocrinol Metab. 2014;19(1):36-41.
21. Cheon CK. Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr. 2011;170(1):1-8
22. Ko JM, Cheon CK, Kim GH, Kim SH, Kim KS, Yoo HW. Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. Horm Res Paediatr. 2010;73(1):41-8.
23. Ko JM, Kim JM, Cheon CK, Kim DH, Lee DY, Cheong WY, Kim EY, Park MJ, Yoo HW. The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. Clin Endocrinol (Oxf). 2010;72(2):196-202


X
  • Faisal Ahmed, UK
Affiliation
College of Medical, Veterinary and Life Sciences University of Glasgow
Session
[Symposium 1: Growth] Oct. 6, 2022 (Thu.) 13:00-14:30 - Speaker
Topic
GloBE-Reg - A Novel Solution for Long-term Monitoring Of GH Therapy
Biography
Professor S. Faisal Ahmed
Samson Gemmell Chair of Child Health
Honorary Consultant in Paediatric Endocrinology
School of Medicine, University of Glasgow
Royal Hospital for Children

Professor Faisal Ahmed graduated from the University of Edinburgh in 1987 and received the bulk of his training in Edinburgh and Cambridge. In 2000, he was appointed as a consultant in paediatric endocrinology at the Royal Hospital for Sick Children, Yorkhill, Glasgow and in 2012 he was appointed to the Samson Gemmell Chair of Child Health at the University of Glasgow. Since 2019, he has held an additional appointment at the University of Leiden as Professor of Endocrine Registries. In Glasgow, he founded the Developmental Endocrinology Research Group and the Office for Rare Conditions and has published over 300 communications with a particular focus on improving the health of people with rare endocrine conditions. For his contributions to the field of paediatric endocrinology, he was awarded the ESPE Research Award in 2021.


X
  • Han-Wook Yoo, South Korea
Affiliation
Bundang CHA Medical Center, CHA University School of Medicine
Session
[Symposium 3: Adrenal/DSD] Oct. 6, 2022 (Thu.) 15:45-17:15 - Speaker / [Plenary 3: Sex and Gender] Oct. 7, 2022 (Fri.) 08:00-08:45 - Chairperson
Topic
CAH/CLAH
Biography
Han-Wook Yoo, M.D., Ph.D.

Emeritus Professor, Department of Pediatrics and Medical Genetics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

Professor, Department of Pediatrics, Center for Genomic Medicine, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam-si, Gyeonggi-do, Korea

Professor Yoo received his M.D. from the College of Medicine, Seoul National University in 1979. He has completed his clinical training as an internship and residency in 1983 and clinical fellowship in Pediatrics at Seoul National University Children’s Hospital in 1986. He furthered his clinical and research training through a postdoctoral fellowship at Department of Pediatrics, Mount Sinai Medical Center, New York, U.S.A. from 1989 through 1992, and certified as clinical molecular geneticist by the American Board of Medical Genetics. In 1994, he joined the faculty of University of Ulsan College of Medicine, Asan Medical Center. In 2001, he became the Chief of the Department of Pediatrics. From 2009 through 2012, he has served as the president of Asan Medical Center Children’s Hospital in Seoul, Korea. After retirement from Asan Medical Center in Feb.-2022, he continued his academic career at CHA Bundang Medical Center, CHA University School of Medicine as a professor of Pediatrics and Center for Genomic Medicine.
Professor Yoo has published more than 250 peer-reviewed articles. He has received several awards for his research and he is an active member of many international academic societies in the field of endocrinology and medical genetics.
Professor Yoo’s main research interests are focused on the characterization of molecular & functional defects of endocrine genetic disorders.


X
  • Helen Colhoun, UK
Affiliation
The University of Edinburgh
Session
[Symposium 5: Type 1 DM] Oct. 7, 2022 (Fri.) 10:15-11:45 - Speaker
Topic
COVID-19 and New-onset T1D/DKA
Biography
Professor Helen Colhoun’s research programme uses large scale population based approaches to further our understanding of the pathogenesis and means of prevention of diabetes complications. A main component of her current work harnesses the increasing availability of e-health record data (EHR) and new technologies for acquiring high dimensional molecular ‘omics data. The Colhoun Group research quantifies contemporaneous absolute risks of complications, evaluate risk factors for complications, and build prediction models using e-health record data. These data are used to inform current health care policy and clinical practice in diabetes. The Research group also use large bioresources linked to these data to quantify the marginal improvement gained by genetics and biomarker panels beyond that achieved by EHR data. Our aim is that these prediction algorithms will then be incorporated into prediction tools for clinical and self-management, and will be useful in clinical trial design. These genetics and biomarker studies also yield important information on the pathogenesis of diabetes complications, that, with more detailed wet-lab research with colleagues in the Institute of Genetics and Cancer, can inform future development of new therapies. Our research programme also encompasses the design and conduct of clinical trials of new drugs and approaches for preventing diabetes complications.
During the COVID-19 global pandemic Professor Colhoun has Co-Chaired the COVID-19 Modelling & Research cell at Public Health Scotland.
Professor Colhoun also chairs the SDRNT1BIO Steering committee.

Engage with Professor Colhoun with digital media:
Website: https://www.ed.ac.uk/centre-genomic-medicine/research-groups/colhoun-group
Twitter: @med_inform


X
  • Junfen Fu, China
Affiliation
The Children's Hospital of Zhejiang University School of Medicine, Chinese Society of Pediatric Endocrinology and Metabolism
Session
[Symposium 2: Puberty] Oct. 6, 2022 (Thu.) 15:45-17:15 - Speaker
Topic
Changing Age of Pubertal Onset
Biography
Current Position: Chief Physician of Endocrinology Department of Children's Hospital, Zhejiang University School of Medicine; Executive vice president of Children’s Hospital of Zhejiang University School of Medicine; Executive vice president of National Clinical Research Center for Child Health; Tutor of PhD, MD and professor of Zhejiang University

SPECIALTIES AND RESEARCH INTERESTS
Specialty: Pediatric Endocrinology
Research interests: Comprehensive prevention and treatment of childhood obesity and metabolic syndrome; Precise diagnosis and treatment of childhood diabetes; Research on specific diseases of growth and development

EDUCATION AND MEDICAL TRAINING
2017.09.17 - 09.24 Genetic counseling training, Boston Children’s Hospital, USA
2008.05 - 2008.08 Clinical training, University of California, Los Angeles (UCLA), USA
2005.07 - 2006.08 Professional training, Henry Wellcome Laboratories, University of Bristol, UK
2001.02 - 2001.10 Visiting scholar, School of Medicine, Yamagate University, Japan
1996.09 - 2000.07 Ph.D., Zhejiang University School of Medicine, Zhejiang, China
1986.09 - 1991.07 Bachelor, Department of Clinical Medicine, Zhejiang Medical University, Zhejiang, China

POSITIONS AND EMPLOYMENT
2019.09 - now Vice president, National Children's Regional Medical Center, China
2019.04 - now

2019.03 - now Vice president, National Clinical Research Center for Child Health, China
Executive Vice President, Children's Hospital of Zhejiang University School of Medicine, China
2019.01 - now Qiushi Distinguished Physician, Zhejiang University, China
2011.12 - now Adjunct Professor, Zhejiang University, China
2006.12 - now Chief Physician of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, China
2001.11 - 2006.12 Deputy Chief Physician of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, China
1996.11 - 2001.11 Attending Physician, Children's Hospital of Zhejiang University School of Medicine, China
1993.07 - 1996.11 Physician, Children's Hospital of Zhejiang University School of Medicine, China
1991.07 - 1993.07 Class teacher of class 1991, Department of Medicine, Zhejiang University School of Medicine, China

PROFESSIONAL MEMBERSHIPS
2020.09 - now President, Expert Group on Standardized Diagnosis and Treatment of Children's Diseases, Medical Artificial Intelligence, Chinese Society of Biomedical Engineering, China
2019.09 - now Vice president, National Children's Regional Medical Center, China
2019.04 - now Vice president, National Clinical Research Center for Child Health, China
2014.09 - now Secretary-General, Asia Pacific Pediatric Endocrine Society (APPES)
2019.04 - now President, Endocrine Genetic Metabolism Group, Pediatric Society, Chinese Medical Association, China
2017.11 - now Vice President, Children's Disease and Health Society, China Maternal and Child Health Association (CMCHA), China
2017.03 - now Vice President, Adolescent Medicine Professional Committee, Chinese Medical Doctor Association, China
2019.10 - now President, Committee of Experts on the Prevention and Treatment of Children's Endocrine and Metabolic Diseases, March of Dimes Birth Defects Foundation of China (MDBDFC), China
2014.07 - now Vice President, Chinese Children Diabetes Collaboration Group, China
2018.07 - now
Chairman, Chinese Children and Adolescents Obesity and Diabetes Alliance, China
2014.05 - now Standing committee member, Endocrinology Society, Chinese Medical Association, China
2015.03 - now Standing committee member & Secretary, Pediatrics Society, Zhejiang Medical Association, China
2014.01 - now President, Zhejiang Children's Growth and Development Quality Control Center, China
2017.12 - now Chairman, Zhejiang Children's Growth and Development Specialist Union, China
2018.10 - now Member, International Programme Organising Committee (IPOC)
2016 - now Member, Intersociety Clinical Guidelines Committee (ICGC)
2015.09 - now Member, International Consortium of Pediatric Endocrinology (ICPE)

EDITORIAL BOARD AND REVIEW
Associate Editor BMC Pediatrics (SCI)
Associate Editor World Journal of Pediatrics (SCI)
Associate Editor Journal of Clinical Endocrinology and Metabolism
(Chinese edition) (SCI)
Editorial Board Member Pediatric Diabetes (SCI)
Corresponding Editorial Board Member Chinese Journal of Pediatrics
Editorial Board Member Chinese Journal of Practical Pediatrics
Editorial Board Member Chinese Journal of Applied Clinical Pediatrics
Associate Editor Endocrine Society Journals (Chinese edition)

HONORS AND AWARDS
2021.08 The first prizes of Zhejiang University Teaching Achievement Award (Rank 2nd & 4th)
2021.03 The 16th "Career and Family Balanced" Advanced Individual of Zhejiang University
2021.02 Young and Middle-aged Experts with Outstanding Contributions to National Health
2020.09 People's Daily, National Famous Doctor Ceremony "National Famous Doctor - Excellent Model"
2019.11 The Second Prize of the 3rd National Maternal and Child Health Science and Technology Achievement Award
2019.10 Excellent Organization Award, The 24th Congress of Chinese Pediatric Society
2019.05 Outstanding Individuals in Adolescent Health and Medicine
2018.11 Outstanding Contribution Award of the Chinese Medical Association for ‘Propagating Health and Massing the People’
2018.08 30th Anniversary Contribution Award, Endocrine Genetic Metabolism Group, Pediatric Society, Chinese Medical Association
2018.08 Nomination Award, The 2nd ‘Bethune Good Doctor’
2018.03 First Level Funding and Training Objects, Zhejiang 151 Talent Project
2017.11 The First Prize of Zhejiang Science and Technology Progress Award (Rank 1st)
2016.04 The First Prize of Zhejiang Medicine and Health Science and Technology Award (Rank 1st)
2015.12 The Second Prize of National Science and Technology Progress Award (Rank 7th)
2008.06 The First Prize of Zhejiang Medicine and Health Science and Technology Innovation Award (Rank 2nd)
2008.01 The Second Prize of Zhejiang Science and Technology Progress Award (Rank 2nd)
2005.10 ‘Kunshan Zong Renqing Memorial Hospital’ Teaching Fellowship
2005.08 Third Level Training Objects, Zhejiang New Century 151 Talent Project
2004.12 Excellence Award of the 3rd Modernized Teaching Skills Competition of Zhejiang Colleges and Universities
2004.12 The First Prize of the 3rd Young Teachers Teaching Skills Competition of Zhejiang University
2004.09 The Second Prize of Zhejiang Science and Technology Progress Award (Rank 5th)
2001.10 The Second Prize of Zhejiang Medicine and Health Science and Technology Innovation Award (Rank 3rd)

GRANTS AWARDED
2020.11 - 2022.10 Virtual simulation experiment project for the diagnosis and treatment of growth and development and chronic endocrine diseases in children Zhejiang Virtual Simulation Experiment Teaching Project (￥200,000)
2020.01 - 2025.12 Research on Innovation of Diagnosis and Treatment Technology for Children's Metabolic Diseases Fundamental Research Funds for the Central Universities (￥600,000)
2020.01 - 2025.12 Early risk warning and precise intervention of obesity and diabetes in children and adolescents Zhejiang University School of Medicine Clinical Medicine Innovation Team Cultivation Project (￥5,500,000)
2020.02 - 2020.12 Study on the Diagnosis and Treatment Technology and System Construction of Novel Coronavirus Infection in Children Zhejiang University Special Scientific Research Fund for COVID-19 Prevention and Control (￥100,000)
2019.04 - 2021.12 Zhejiang Research Center for Diagnosis and Treatment of Children's Metabolic Diseases The Third Batch of Zhejiang Province Major Disease Diagnosis and Treatment Technology Research Center (￥5,000,000)
2017.09 - 2018.12 Real-world study on the efficacy and safety of genetically recombinant human growth hormone in the treatment of central precocious puberty or fast-advancing adolescent girls Wound Repair Special Project of the National Health Commission's Major Disease Prevention and Control Technology Action Plan (2017ZX-01S-005, ￥1,447,200)
2016.09 - 2020.12 The Study of Prevalence and Nutrition State of Children and Adolescent Diabetes and its Affecting Factors National Key Research and Development Program of China (2016YFC1305300, ￥5,766,000)
2016.01 - 2019.12 Central Regulation of S100A8/A9 in Glucose Metabolic Disorders via NF-KB Signaling Pathway in Obese Children National Natural Science Foundation of China (81570759, ￥580,000)
2014.12 - 2017.12 Establishment and Application of Risk Monitor System in Childhood T1DM Zhejiang Provincial Key Science and Technology Project (2014C03045-2, ￥850,000)
2013.01 - 2016.12 Study on the Mechanism of MiR-152 by Regulating Wnt Signaling Pathway to Cause Non-alcoholic Fatty Liver Disease National Natural Science Foundation of China (81270938, ￥650,000)
2012.06 - 2015.12 Application evaluation and promotion demonstration of early recognition and intervention technology of metabolic syndrome "Twelfth Five-Year" National Technology Support Plan (2012BAI02B03, ￥680,000)
2012.06 - 2013.06 Sea Environment on the Puberty Development of Island Children Zhejiang University Key Construction Special Fund (985 Project) (S20120001534, ￥350,000)
2011.12 - 2013.12 Puberty Medicine Zhejiang Provincial Key Disciplines of Medicine (Innovation Discipline) (11-CX24, ￥300,000)
2011.04 - 2014.03 The Application and Demonstration of the Diagnostic Criteria and Treatment Specifications for Childhood Metabolic Syndrome Zhejiang Province Key Scientific and Technological Innovation Team (2010R50050, ￥100,000)
2009.09 - 2012.12 The Diagnostic Criteria and Treatment Specifications for Childhood Metabolic Syndrome "Eleventh Five-Year" National Science and Technology Support Plan (2009BAI80B01, ￥2,225,000)
2009.01 - 2010.12 The Role of PLA2/LPC Pathway in the Mechanism of Lipoapoptosis in NAFLD Zhejiang Provincial Nature Science (Y2080047, ￥80,000)
2009.01 - 2010.12 The Effect of Metformin on the PLA2/LPC Pathway of Lipoapoptosis in NAFLD Zhejiang Major Medical and Health Science and Technology & Ministry of Health (WKJ2008-2-026, ￥150,000)
2004.12 - 2007.12 The Protective Mechanism of Recombined Adiponectin in Baby Rabbit NAFLD Zhejiang Province Scientific and Technological Project (2004C30064)
2003.01 - 2005.12 Study on Sexual Development of Obese Children with Different Degrees Zhejiang Provincial Health Department Outstanding Young Talent Research Fund (2003QN012)

INVITED SEMINARS AND ORAL CONFERENCE PRESENTATIONS
2019.11.27- 11.29 Childhood diseases and health Symposium Conference, Chongqing, China (Symposium Speaker)
Title: Advance the quality control system for growth and development related diseases
2019.10.23 - 10.26 23rd National Congress of Pediatrics of Chinese Medical Association, Zhuhai, China (General Assembly Presiding)
2019.09.19 - 09.22 10th ISNS International Symposium and 11th Asia Pacific Regional Meeting, Hangzhou, China (Symposium Speaker)
Title: Evaluation of CAH screening
2019.09.02 - 09.09 Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia Conference, Philadelphia, USA
2019.07.24 - 07.28 18th National Conference on Pediatric Endocrine Genetic Metabolic Diseases, Chongqing, China (Symposium Speaker & General Assembly Presiding)
Title: Fully promote standardized diagnosis and treatment and quality control of the growth and development of Chinese children; Diagnosis and treatment of transitional growth hormone deficiency
2019.05.04 - 05.05 5th Adolescent Physicians Association Adolescent Health and Medicine Annual Meeting, Nanchang, China (Symposium Speaker)
Title: DSD-MDT model with case discussion report and consensus on diagnosis and treatment of 21 hydroxylase deficiency
2019.03.23 - 03.26 101st Annual Meeting and Expo of the Endocrine Society (ENDO2019), New Orleans, USA (General Assembly Presiding)
2018.11.08 - 11.10 International (Asia) Artificial Intelligence Conference, Hangzhou, China (Symposium Speaker)
Title: Application of artificial intelligence in the field of children's growth and development
2018.11.07 - 11.10 10th APPES Scientific Meeting, Chiang Mai, Thailand (Symposium Speaker)
Title: Diagnostic Performance of Artificial Neural NetworkBased TW3 Skeletal Maturity Assessment; Circulating Exosomal miRNAs Involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis
2018.09.27 - 09.29 57th ESPE (European Society for Pediatric Endocrinology) Meeting, Athens, Greece (Symposium Speaker)
Title: AI-based TW3 bone age assessment and its clinical application
2018.08.23 - 08.26 5th Asian Congress of Genetic and Metabolic Diseases & 17th National Conference on Pediatric Endocrine and Genetic Metabolic Disease, Wuhan, China (Plenary Speaker & General Assembly Presiding)
2018.03.17 - 03.20 100th Annual Meeting and Expo of the Endocrine Society (ENDO2018), Chicago, USA (General Assembly Presiding)
Title: Polycystic ovary syndrome clinical and genetic characteristics
2017.09.14 - 09.17 10th International Meeting of Pediatric Endocrinology, Washington, USA (Plenary Speaker)
Title: Polycystic ovary syndrome clinical and genetic characteristics
2016.12.16 - 12.17 9th Biennial Scientific Meeting of the APPES (Asia Pacific Paediatric Endocrine Society) & 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology, Japan (General Assembly Presiding)
2016.10.26 - 10.29 42nd Annual Conference International Society for Pediatric and Adolescent Diabetes (ISPAD), Valencia, Spain (Symposium Speaker & General Assembly Presiding)
Title: Pandemic and Potential Solutions Improving Diabetes in Emerging Economies---CHINA
2016.05.21 - 05.22 APPES Scientific Meeting, Hanoi, Vietnam (Symposium Speaker)
Title: Management of childhood diabetes (type 1&2)
2016.03.03 - 03.06 5th Global Congress for Consensus in Pediatrics &Child Health, Xi’an, China (Symposium Speaker)
Title: Effect of Body Mass Index on Gonadal Axis
2014.10.28 - 11.01 8th APPES Biennial Scientific Meeting, Darwin, Australia (Symposium Speaker)
Title: The Growth and Development Database of Chinese Short Children
2013.09.19 - 09.22 9th Joint Meeting of Pediatric Endocrinology, Milan, Italy (Symposium Speaker & General Assembly Presiding)
2012.12.19 - 12.23 ‘Weight Control in Obesity’, Philadelphia, USA (Symposium Speaker)
Title: Definition and exploration significance of metabolic syndrome in Chinese children and adolescents
2012.11.13 - 11.17 7th APPES Biennial Scientific Meeting, Bali, Indonesia (Symposium Speaker)
Title: Status, trends and predicaments of childhood diabetes in China
2007.11.08 - 11.10 ‘Prevention and treatment in obese children and adolescents’, Guam, USA (Symposium Speaker)
Title: The current status of obesity and metabolic syndrome in Han children and adolescents and the effect of metformin combined with lifestyle intervention

PUBLICATIONS (in English)
1. Li Zhang, JingNan Chen, JianWei Zhang, Wei Wu, Ke Huang, RuiMin Chen, Mireguli Maimaiti, ShaoKe Chen, BingYan Cao, Min Zhu, ChunLin Wang, Zhe Su, Yan Liang, Hui Yao, HaiYan Wei, RongXiu Zheng, HongWei Du, FeiHong Luo, Pin Li, MinJia Mo, YunXian Yu, Ergang Wang, Robert M Dorazio, Junfen Fu*. Regional Disparities in Obesity Among a Heterogeneous Population of Chinese Children and Adolescents. JAMA Network Open. 2021 Oct 1;4(10):e2131040. doi: 10.1001/jamanetworkopen.2021.31040. (IF:5.032)
2. Xuhong Zhang, Xiaoyu Wang, Senjie Wang, Wei Peng, Rahim Ullah, Junfen Fu*, Yudong Zhou*, Ye Shen*. Trilogy Development of Proopiomelanocortin Neurons From Embryonic to Adult Stages in the Mice Retina. Frontiers in Cell and Developmental Biology. 2021 Oct 5;9:718851. doi: 10.3389/fcell.2021.718851. (IF:6.684)
3. Yinghu Chen, Hangping Yao, Junfen Fu*, Qiang Shu*, Zhimin Chen, Nanping Wu, Sheng Ye, Wei Wang, Yan Ni, Shiqiang Shang, Wei Li, Jishan Zheng, Shibo Li, Liang Hong, Qi Zhang, Weize Xu, Junsong Chen, Lingyan Fan, Xiaohui Cang, Jianbing Wang, Xiangyun Lu, Qingyi Cao. The low contagiousness and new A958D mutation of SARS-CoV-2 in children: An observational cohort study. International Journal of Infectious Diseases. 2021 Oct;111:347-353. doi: 10.1016/j.ijid.2021.08.036. (IF:3.623)
4. Rahim Ullah, Naveed Rauf, Ghulam Nabi, Shen Yi*, Zhou Yu-Dong*, Junfen Fu*. Mechanistic insight into high-fat diet-induced metabolic inflammation in the arcuate nucleus of the hypothalamus. Biomedicine&Pharmacotherapy. 2021 Aug 10;142:112012. doi: 10.1016/j.biopha.2021.112012. (IF:6.529)
5. Jingnan Chen, Xitong Wang, Tian Xia, Yanhua Bi, Bin Liu*, Junfen Fu*, Runzhi Zhu*. Molecular mechanisms and therapeutic implications of dihydromyricetin in liver disease.Biomedicine&Pharmacotherapy.2021Jul30;142:111927.doi:10.1016/j.biopha.2021.111927. (IF:6.529)
6. Ling Hou, Xiuzhen Li, Li Liu, Hanyang Wei, Feng Xiong, Hongwei Du, Yu Yang, Huifeng Zhang, Qin Zhang, Hui Yao, Junfen Fu, Xiaoli Yan, Lanwei Cui, Geli Liu, Tang Li, Shaoke Chen, Pin Li, Ying Xin, Xiangrong Liang, Baosheng Yu, Zhiya Dong, Ruimin Chen, Huamei Ma, Xinran Cheng, Feihong Luo, Chunxiu Gong, Wenhui Song, Xiaobo Chen, Zhixin Zhang, Xiangyun Peng, Guimei Li, Liyang Liang, Mireguli Maimaiti, Pik To Cheung, Xiaoping Luo*. A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children. Frontiers in Endocrinology (Lausanne). 2021 Jun 15;12:583114. doi: 10.3389/fendo.2021.583114. (IF:3.644)
7. Naveed Rauf, Ayesha Nawaz, Hizb Ullah, Rahim Ullah, Ghulam Nabi, Asad Ullah, Fazal Wahab, Sarwat Jahan*, Junfen Fu*. Therapeutic effects of chitosan-embedded vitamin C, E nanoparticles against cisplatin-induced gametogenic and androgenic toxicity in adult male rats. Environmental Science and Pollution Research. 2021 May 29. doi: 10.1007/s11356-021-14516-y. (IF:3.056)
8. Shumin Zhan, Ke Huang, Wei Wu , Danni Zhang, Ana Liu, Robert M Dorazio, Jianrong Shi, Rahim Ullah, Li Zhang, Jinling Wang, Guanping Dong*, Yan Ni*, Junfen Fu*. The Use of Morning Urinary Gonadotropins and Sexual Hormones in the Management of Early Puberty in Chinese Girls. Journal of Clinical Endocrinology & Metabolism. 2021 Jun 23:dgab448. doi: 10.1210/clinem/dgab448. (IF:5.789)
9. Wei Peng, Jinna Yuan, Valentina Chiavaroli, Guanping Dong, Ke Huang, Wei Wu, Rahim Ullah, Binghan Jin, Hu Lin, José G B Derraik*, Junfen Fu*. 10-Year Incidence of Diabetic Ketoacidosis at Type 1 Diabetes Diagnosis in Children Aged Less Than 16 Years From a Large Regional Center (Hangzhou, China). Frontiers in Endocrinology (Lausanne). 2021 Apr 27;12:653519. doi: 10.3389/fendo.2021.653519. (IF:3.644)
10. Ke Huang, Shuting Si, Ruimin Chen, Chunlin Wang, Shaoke Chen, Yan Liang, Hui Yao, Rongxiu Zheng, Fang Liu, Binyan Cao, Zhe Su, Maimaiti Mireguli, Feihong Luo, Pin Li, Hongwei Du, Min Zhu, Yu Yang, Lanwei Cui, Yunxian Yu*, Junfen Fu*. Preterm Birth and Birth Weight and the Risk of Type 1 Diabetes in Chinese Children. Frontiers in Endocrinology (Lausanne). 2021 Apr 14;12:603277. doi: 10.3389/fendo.2021.603277. (IF:3.644)
11. Jingqiang Wang, Wenqian Song, Ruikai Yang, Chao Li, Ting Wu, Xiao Bing Dong, Bin Zhou, Xizhi Guo, Jianfeng Chen, Zhiyong Liu, Qing Cissy Yu, Wen Li*, Junfen Fu*, Yi Arial Zeng*. Endothelial Wnts control mammary epithelial patterning via fibroblast signaling. Cell Reports. 2021 Mar 30;34(13):108897. doi: 10.1016/j.celrep.2021.108897. (IF:8.109)
12. Jinling Wang, Shumin Zhan, Jinna Yuan, Rahim Ullah, Guanping Dong, Wei Wu, Ke Huang, Junfen Fu*. The incidence of brain lesions in central precocious puberty: The main cause for Chinese boys was idiopathic. Clinical Endocrinology (Oxf). 2021 Mar 15. doi: 10.1111/cen.14462. (IF:3.380)
13. Rahim Ullah, Rabia Naz, Aalia Batool, Madiha Wazir, Tanzil Ur Rahman, Ghulam Nabi, Fazal Wahab, Junfen Fu*, Muhammad Shahab*. RF9 Rescues Cortisol-Induced Repression of Testosterone Levels in Adult Male Macaques. Frontiers in Physiology. 2021 Feb 25;12:630796. doi: 10.3389/fphys.2021.630796. (IF:3.367)
14. Jingqiang Wang, Kun Chu, Yinghua Wang, Jinsong Li, Junfen Fu*, Yi Arial Zeng*, Wen Li*. Procr-expressing granulosa cells are highly proliferative and are important for follicle development. iScience. 2021 Feb 19; 24(2): 102065. doi: 10.1016/j.isci.2021.102065. (IF:4.74)
15. Jinna Yuan, Jianwei Zhang, Wayne S. Cutfield, Guanping Dong, Youjun Jiang, Wei Wu, Ke Huang, Xiaochun Chen, Yan Zheng, Bihong Liu, José G. B. Derraik, Junfen Fu*. Surrogate markers and predictors of endogenous insulin secretion in children and adolescents with type 1 diabetes. World Journal of Pediatrics (2021). 2021 Jan. https://doi.org/10.1007/s12519-020-00382-0. (IF:1.228)
16. Meiping Shen, Hongzhen Xu, Junfen Fu*, Tianlin Wang, Zangzang Fu, Xiaomei Zhao, Gendi Zhou, Qi Jin, Guixiu Tong. Investigation of anxiety levels of 1637 healthcare workers during the epidemic of COVID-19. PLoS One. 2020 Dec; 15(12): e0243890. doi: 10.1371/journal.pone.0243890. (IF: 2.74)
17. Junfeng Zhang, Jiajia Cao, Hui Xu, Guanping Dong, Ke Huang, Wei Wu, Jingjing Ye, Junfen Fu*. Ferritin as a key risk factor for nonalcoholic fatty liver disease in children with obesity. Journal of Clinical Laboratory Analysis. 2020 Nov: e23602. doi: 10.1002/jcla.23602. (IF: 1.54)
18. Hao Yang, Xiaoxiao Xuan, Donglai Hu, Hang Zhang, Qiang Shu, Xiaodong Guo*, Jufen Fu*. Comparison of effect between dartos fascia and tunica vaginalis fascia in TIP urethroplasty: a meta-analysis of comparative studies. BMC Urology. 2020 Oct; 20(1). doi: 10.1186/s12894-020-00737-9. (IF: 1.592)
19. Jinling Wang, Huiqi Qu, Ke Huang, Wei Wu, Chunlin Wang, Li Liang, Chunxiu Gong, Feng Xiong, Feihong Luo, Geli Liu, Shaoke Chen, Lifeng Tian, Hakon Hakonarson, Junfen Fu*. High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor. Journal of Paediatrics and Child Health. 2020 Oct; 56(10): 1590-1596. doi: 10.1111/jpc.15038. (IF: 1.71)
20. Hu Lin, Xuelian Zhou, Xuefeng Chen, Ke Huang, Wei Wu, Junfen Fu, Yangxi Li, Constantin Polychronakos, Guanping Dong. tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly. BMJ Open Diabetes Research & Care. 2020 Oct; 8(1). doi: 10.1136/bmjdrc-2020-001601. (IF: 5.067)
21. Binghan Jin, Hu Lin, Jinna Yuan, Guanping Dong, Ke Huang, Wei Wu, Xuefeng Chen, Li Zhang, Jingling Wang, Xinyi Liang, Yangli Dai, Xiaoqin Xu, Xuelian Zhou, Mingqiang Zhu, Guohua Li, Wayne S. Cutfield, Paul L. Hofman, José G. B. Derraik*, Junfen Fu*. Abdominal Adiposity and Total Body Fat as Predictors of Cardiometabolic Health in Children and Adolescents With Obesity. Frontiers in Endocrinology. 2020 Sep; 11: 579. doi: 10.3389/fendo.2020.00579. (IF: 3.644)
22. Jin-Ling Wang, Yan-Chun Ji, Jun-Fen Fu*. Novel mitochondrial tRNAArg 10461A>G mutation in a pedigree with obesity. World J Pediatr. 2020 Aug;16(4):429-431. doi: 10.1007/s12519-019-00334-3. (IF: 1.437)
23. Wei Wu, Jinna Yuan, Yu Shen, Yunxian Yu, Xuefeng Chen, Li Zhang, Ke Huang, Jianying Zhan, Guanping Dong, Junfen Fu. Iron overload is related to elevated blood glucose levels in obese children and aggravates high glucose-induced endothelial cell dysfunction in vitro. BMJ Open Diabetes Research & Care. 2020 Jul; 8(1). doi: 10.1136/bmjdrc-2020-001426. (IF: 5.067)
24. Chunzhen Hua, Ziping Miao, Jishan Zheng, Qian Huang, Qingfeng Sun, Hongping Lu, Feifei Su, Weihong Wang, Lieping Huang, Zhiwei Xu, Ledan Ji, Hongping Zhang, Xiaowei Yang, Minghui Li, Yueyan Mao, Manzhen Ying, Sheng Ye, Qiang Shu, Enfu Chen, Jianfeng Liang, Wei Wang, Zhimin Chen, Wei Li, Junfen Fu*. Epidemiological features and viral shedding in children with SARS-CoV-2 infection. Journal of Medical Virology. 2020 Jun. doi: 10.1002/jmv.26180. (IF: 1.988)
25. Z. Chen, L. Tong, Y. Zhou, C. Hua, W. Wang, J. Fu*, Q. Shu, L. Hong, H. Xu, Z. Xu, Y. Chen, Y. Mao, S. Ye, X. Wu, L. Wang, Y. Luo, X. Zou, X. Tao, Y. Zhang. Childhood COVID-19: a multicentre retrospective study. Clinical Microbiology and Infection. 2020 Jun 27. doi: 10.1016/j.cmi.2020.06.015. (IF:7.117)
26. Haomin Li, Gang Yu, Huilong Duan, Junfen Fu, Qiang Shu. Changes in Children's Healthcare Visits During COVID-19 Pandemic in Hangzhou, China. The Journal of Pediatrics. 2020 May; S0022-3476(20)30587-4. doi: 10.1016/j.jpeds.2020.05.013. (IF: 3.89)
27. Qing Ye, Bili Wang, Jianhua Mao, Junfen Fu, Shiqiang Shang, Qiang Shu, Ting Zhang. Epidemiological analysis of COVID-19 and practical experience from China. Journal of Medical Virology. 2020 Apr. doi: 10.1002/jmv.25813. (IF: 1.988)
28. Yan Ni*, Gang Yu, Huan Chen, Yongqiong Deng, Philippa M. Wells, Claire J. Steves, Feng Ju, Junfen Fu*. M2IA: a web server for microbiome and metabolome integrative analysis. Bioinformatics. 2020 Mar: btaa188. doi: 10.1093/bioinformatics/btaa188. (IF: 7.307)
29. Xuelian Zhou, Ergang Wang, Qiang Lin, Guanping Dong, Wei Wu, Ke Huang, Can Lai, Gang Yu, Haichun Zhou, Xiaohui Ma, Xuan Jia, Lei Shi, Yongsheng Zheng, Lanxuan Liu, Da Ha, Hao Ni, Jun Yang, Junfen Fu*. Diagnostic performance of convolutional neural network-based Tanner-Whitehouse 3 bone age assessment system. Quantitative Imaging in Medicine and Surgery. 2020 Mar; 10(3):657-667. doi: 10.21037/qims.2020.02.20. (IF: 3.074)
30. Xuelian Zhou, Ke Huang, Junjun Jia, Yan Ni, Jinna Yuan, Xinyi Liang, Hu Lin, Wei Peng, Wei Wu, Guanping Dong, Junfen Fu*. Exosomal miRNAs Profile in Children’s Nonalcoholic Fatty Liver Disease and the Correlation with Transaminase and Uric Acid. Annals of Nutrition and Metabolism. 2020 Mar; 76(1):44–53. doi: 10.1159/000506665. (IF: 3.051)
31. Junfen Fu*, Jianwei Zhang, Ruimin Chen, Xiaoyu Ma, Chunlin Wang, Linqi Chen, Yan Liang, Xiaoping Luo, Yu Yang, Feng Xiong, Zhe Su, Jing Wu, Hui Yao, Jinliang Xu, Di Wu, Yan Ni. Long-Term Outcomes of Treatments for Central Precocious Puberty or Early and Fast Puberty in Chinese Girls. Journal of Clinical Endocrinology & Metabolism. 2020 Mar; 105(3):dgz027. doi: 10.1210/clinem/dgz027. (IF: 5.789)
32. Xiaolu Ma, Zheng Chen, Jiajun Zhu, Xiaoxia Shen, Mingyuan Wu, Liping Shi, Lizhong Du, Junfen Fu*, Qiang Shu*. Management strategies of neonatal jaundice during the coronavirus disease 2019 outbreak. World Journal of Pediatrics. 2020 Feb: 1-4. doi: 10.1007/s12519-020-00347-3. (IF: 1.228)
33. Zhimin Chen, Junfen Fu*, Qiang Shu*. New coronavirus: new challenges for pediatricians. World Journal of Pediatrics. 2020 Feb. doi: 10.1007/s12519-020-00346-4. (IF: 1.228)
34. Zhimin Chen, Junfen Fu*, Qiang Shu*, Yinghu Chen, Chunzhen Hua, Fubang Li, Ru Lin, Lanfang Tang, Tianlin Wang, Wei Wang, Yingshuo Wang, Weize Xu, Zihao Yang, Sheng Ye, Tianming Yuan, Chenmei Zhang, Yuanyuan Zhang. Diagnosis and treatment recommendations for pediatric respiratory infection caused by the 2019 novel coronavirus. World Journal of Pediatrics. 2020 Feb: 1-7. doi: 10.1007/s12519-020-00345-5. (IF: 1.228)
35. Jinling Wang, Ningning Zhao, Xiaoting Mao, Feilong Meng, Ke Huang, Guanping Dong, Yanchun Ji, Junfen Fu*. Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family. Bioscience Reports. 2020 Jan; 40(1):BSR20192153. doi: 10.1042/BSR20192153. (IF: 2.906)
36. Lijun Fan, Xiaoya Ren, Yanning Song, Chang Su, Junfen Fu, Chunxiu Gong. Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. Orphanet J Rare Dis. 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. (IF: 4.029)
37. Guohua Li, Xuefeng Chen, Xinyi Liang, Hu Lin, Li Zhang, Xiaoqin Xu, Wei Wu, Ke Huang, Guanping Dong, Jianwei Zhang, Susan R. Rose, Rahim Ullah, Phil Zeitler, Junfen Fu*. β-Cell function in obese children and adolescents with metabolic syndrome compared to isolated obesity. Pediatric Diabetes. 2019 Nov; 20(7):861-870. doi: 10.1111/pedi.12905. (IF: 4.267)
38. Rahim Ullah, Ali Raza, Naveed Rauf, Yi Shen, Yudong Zhou, Junfen Fu*. Postnatal Feeding With a Fat Rich Diet Induces Precocious Puberty Independent of Body Weight, Body Fat, and Leptin Levels in Female Mice. Front Endocrinol (Lausanne). 2019 Nov; 10:758. doi: 10.3389/fendo.2019.00758. (IF: 3.634)
39. Éadaoin M. Butler, Alisha Suhag, Ye Hong, Li Liang, Chunxiu Gong, Feng Xiong, Feihong Luo, Geli Liu, Shaoke Chen, Rachael W. Taylor, Wayne S. Cutfield, Junfen Fu*, José G. B. Derraik. Parental Perceptions of Obesity in School Children and Subsequent Action. Childhood Obesity. 2019 Oct; 15(7):459-467. doi: 10.1089/chi.2018.0338. (IF: 2.543)
40. Ke Huang, Yangli Dai, Jianwei Zhang, Li Zhang, Wei Wu, Guanping Dong, Rahim Ullah, Yue Fei, Junfen Fu*. Gitelman syndrome combined with growth hormone deficiency: Three cases report. Medicine (Baltimore). 2019 Oct; 98(40):e17244. doi: 10.1097/MD.0000000000017244. (IF: 1.87)
41. Ningning Zhao, Guanping Dong, Wei Wu, Jinling Wang, Rahim Ullah, Junfen Fu*. FTO gene polymorphisms and obesity risk in Chinese population: a meta-analysis. World Journal of Pediatrics. 2019 Aug; 15(4):382-389. doi: 10.1007/s12519-019-00254-2. (IF: 1.228)
42. Junfen Fu. Big challenges: obesity and type 2 diabetes in children and adolescents. World Journal of Pediatrics. 2019 Aug; 15(4):313-314. doi:10.1007/s12519-019-00290-y. (IF: 1.228)
43. Mingqiang Zhu, Yangli Dai, Ke Huang, Wei Wu, Junfen Fu, Chaochun Zou, Guanping Dong. Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes. Journal of Pediatric Endocrinology & Metabolism. 2019 Jul; 32(7):759-765. doi: 10.1515/jpem-2018-0446. (IF: 1.239)
44. Ye Hong, Sarah Maessen, Guanping Dong, Ke Huang, Wei Wu, Liang Li, Chunlin Wang, Xiaochun Chen, John Gibbins, Wayne Cutfield, José Derraik, Junfen Fu*. Associations between maternal age at menarche and anthropometric and metabolic parameters in the adolescent offspring. Clinical Endocrinology. 2019 May; 90(5):702-710. doi: 10.1111/cen.13948. (IF: 3.487)
45. Qingqian Wu, Qintao Wang, Junfen Fu, Rendong Ren. Polysaccharides derived from natural sources regulate triglyceride and cholesterol metabolism: a review of the mechanisms. Food Function. 2019 May; 10(5): 2330-2339. doi: 10.1039/c8fo02375a. (IF: 3.289)
46. Jianwei Zhang, Jinliang Xu, Lifang Liu, Xiaohua Xu, Xinxian Shu, Zhifeng Yang, Lanqiu Lv, Xiding Cai, Xianjiang Jin, Zaiyan Gu, Junfen Fu*. The prevalence of premature thelarche in girls and gynecomastia in boys and the associated factors in children in Southern China. BMC Pediatrics. 2019 Apr; 19(1):107. doi: 10.1186/s12887-019-1426-6. (IF: 2.071)
47. Rahim Ullah, Naveed Rauf, Ghulam Nabi, Hamid Ullah, Yi Shen, Yudong Zhou, Junfen Fu*. Role of Nutrition in the Pathogenesis and Prevention of Non-alcoholic Fatty Liver Disease: Recent Updates. International Journal of Biological Sciences. 2019 Jan; 15(2):265-276. doi: 10.7150/ijbs.30121. (IF: 4.067)
48. Hongxi Zhang, Junfen Fu*, Can Lai, Fengyu Tian, Xiaoli Su, Ke Huang. Feasibility of balanced steady-state free precession sequence at 1.5T for the evaluation of hepatic steatosis in obese children and adolescents. European Radiology. 2018 Nov; 28(11):4479-4487. doi: 10.1007/s00330-018-5344-z. (IF: 4.027)
49. Catherine Pihoker, Gun Forsander, Bereket Fantahun, Anju Virmani, Sarah Corathers, Paul Benitez-Aguirre, Junfen Fu, David M. Maahs. ISPAD Clinical Practice Consensus Guidelines 2018: The delivery of ambulatory diabetes care to children and adolescents with diabetes. Pediatric Diabetes. 2018 Oct; 19 Suppl 27:84-104. doi: 10.1111/pedi.12757. (IF: 4.267)
50. Phillip Zeitler, Silva Arslanian, Junfen Fu, Orit Pinhas-Hamiel, Thomas Reinehr, Nikhil Tandon, Tatsuhiko Urakami, Jencia Wong, David M. Maahs. ISPAD Clinical Practice Consensus Guidelines 2018: Type 2 diabetes mellitus in youth. Pediatric Diabetes. 2018 Oct; 19 Suppl 27:28-46. doi: 10.1111/pedi.12719. (IF: 4.267)
51. Xiaojie Ma, Xi Chen, Yan Jin, Wenyan Ge, Weiyun Wang, Linghao Kong, Junfang Ji, Xing Guo, Jun Huang, Xinhua Feng, Junfen Fu, Saiyong Zhu. Small molecules promote CRISPR-Cpf1-mediated genome editing in human pluripotent stem cells. Nature communications. 2018 Apr; 9(1):1303. doi: 10.1038/s41467-018-03760-5. (IF: 12.353)
52. Qing Ye, Junfen Fu*. Paediatric type 2 diabetes in China—Pandemic, progression, and potential solutions. Pediatric Diabetes. 2018 Feb; 19(1):27-35. doi: 10.1111/pedi.12517. (IF: 4.267)
53. Ruoran Wang, Ran Pan, Wenjing Zhang, Junfen Fu, Jiandie D. Lin, Zhuoxian Meng. The SWI/SNF chromatin-remodeling factors BAF60a, b, and c in nutrient signaling and metabolic control. Protein & Cell. 2018 Feb; 9(2):207-215. doi: 10.1007/s13238-017-0442-2. (IF: 7.575)
54. Rahim Ullah, Aalia Batool, Madiha Wazir, Rabia Naz, Tanzil Ur Rahman, Fazal Wahab, Muhammad Shahab, Junfen Fu*. Gonadotropin inhibitory hormone and RF9 stimulate hypothalamic-pituitary-adrenal axis in adult male rhesus monkeys. Neuropeptides. 2017 Dec; 66:1-7. doi: 10.1016/j.npep.2017.07.005. (IF: 2.915)
55. Rahim Ullah, Yan Su, Yi Shen, Chunlu Li, Xiaoqin Xu, Jianwei Zhang, Ke Huang, Naveed Rauf, Yang He, Jingjing Cheng, Huaping Qin, Yudong Zhou, Junfen Fu*. Postnatal feeding with high-fat diet induces obesity and precocious puberty in C57BL/6J mouse pups: a novel model of obesity and puberty. Frontiers of Medicine. 2017 Jun; 11(2):266-276. doi: 10.1007/s11684-017-0530-y. (IF: 2.027)
56. Xuefeng Chen, Xiumin Wang, Guanping Dong, Junfen Fu, Wei Wu, Youjun Jiang. Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):431-436. doi: 10.1515/jpem-2016-0341. (IF: 1.278)
57. Min Liu, Zhiguang Zhou, Jinhua Yan, Pin Li, Wenhui Song, Junfen Fu, Xiaobo Chen, Weigang Zhao, Li Xi, Xiaoping Luo, Liang Sha, Xueyuan Deng, Chunxiu Gong. A randomised, open-labelstudy of insulin glargine or neutral protamine Hagedorn insulin in Chinese paediatric patients with type 1 diabetes mellitus. BMC Endocr Disord. 2016 Nov 26;16(1):67. doi: 10.1186/s12902-016-0146-2. (IF: 2.286)
58. Rahim Ullah, Yi Shen, Yudong Zhou, Ke Huang, Junfen Fu*, Fazal Wahab, Muhammad Shahab. Expression and actions of GnIH and its orthologs in vertebrates: Current status and advanced knowledge. Neuropeptides. 2016 Oct; 59:9-20. doi: 10.1016/j.npep.2016.05.004. (IF: 2.915)
59. Qing Ye, Jun-Fen Fu, Jian-Hua Mao, Shi-Qiang Shang. Haze is a risk factor contributing to the rapid spread of respiratory syncytial virus in children. Environ Sci Pollut Res Int. 2016 Oct;23(20):20178-20185. doi: 10.1007/s11356-016-7228-6. (IF: 3.056)
60. Wei Wu, Hongxi Zhang, Xiaoqin Xu, Ke Huang, Junfen Fu*. Intrahepatic Fat Content and Markers of Hepatic Fibrosis in Obese Children. International Journal of Endocrinology. 2016; 2016:4890974. doi: 10.1155/2016/4890974. (IF: 2.51)
61. Craig F. Munns, Nick Shaw, Mairead Kiely, Bonny L. Specker, Tom D. Thacher, Keiichi Ozono, Toshimi Michigami, Dov Tiosano, M. Zulf Mughal, Outi Mäkitie, Lorna Ramos-Abad, Leanne Ward, Linda A. DiMeglio, Navoda Atapattu, Hamilton Cassinelli, Christian Braegger, John M. Pettifor, Anju Seth, Hafsatu Wasagu Idris, Vijayalakshmi Bhatia, Junfen Fu, Gail Goldberg, Lars Sävendahl, Rajesh Khadgawat, Pawel Pludowski, Jane Maddock, Elina Hyppönen, Abiola Oduwole, Emma Frew, Magda Aguiar, Ted Tulchinsky, Gary Butler, Wolfgang Högler. Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. Journal of Clinical Endocrinology & Metabolism. 2016 Feb; 101(2):394-415. doi: 10.1210/jc.2015-2175. (IF: 5.789)
62. Ke Huang, Youjun Jiang, Junfen Fu*, Jianfeng Liang, Hong Zhu, Zhiwei Zhu, Lifei Hu, Guanping Dong, Xuefeng Chen. THE RELATIONSHIP BETWEEN SERUM 25-HYDROXYVITAMIN D AND GLUCOSE HOMEOSTASIS IN OBESE CHILDREN AND ADOLESCENTS IN ZHEJIANG, CHINA. Endocrine Practice. 2015 Oct; 21(10):1117-1124. doi: 10.4158/EP15694.OR. (IF: 4.149)
63. Zhe-Pin Yuan, Min Yang, Li Liang, Jun-Fen Fu, Feng Xiong, Ge-Li Liu, Chun-Xiu Gong, Fei-Hong Luo, Shao-Ke Chen, Dan-Dan Zhang, Shuai Zhang, Yi-Min Zhu. Possible role of birth weight on general and central obesity in Chinese children and adolescents: a cross-sectional study. Ann Epidemiol. 2015 Oct;25(10):748-52. doi: 10.1016/j.annepidem. (IF: 2.573)
64. Jianfeng Liang, Junfen Fu*, Youyun Jiang, Guanping Dong, Xiumin Wang, Wei Wu. TriGlycerides and high-density lipoprotein cholesterol ratio compared with homeostasis model assessment insulin resistance indexes in screening for metabolic syndrome in the chinese obese children: a cross section study. BMC Pediatr. 2015 Sep 28;15:138. doi: 10.1186/s12887-015-0456-y. (IF: 2.56)
65. Hongxi Zhang, Huiping Yang, Can Lai, Xiaoqin Xu, Ke Huang, Junfen Fu*. Quantitative relationship between liver fat content and metabolic syndrome in obese children and adolescents. Clinical Endocrinology. 2015 Jul; 83(1):43-49. doi: 10.1111/cen.12758. (IF: 3.487)
66. Hongxi Zhang, Xiaoqin Xu, Junfen Fu*, Can Lai, Xuefeng Chen. Predicting hepatic steatosis and liver fat content in obese children based on biochemical parameters and anthropometry. Pediatric Obesity. 2015 Apr; 10(2):112-117. doi: 10.1111/ijpo.232. (IF: 3.98)
67. Dandan Zhang, Zhenli Li, Hao Wang, Min Yang, Li Liang, Junfen Fu, Chunling Wang, Jie Ling, Yan Zhang, Shuai Zhang, Yuyang Xu, Yimin Zhu, Maode Lai. Interactions between obesity-related copy number variants and dietary behaviors in childhood obesity. Nutrients. 2015 Apr 22;7(4):3054-66. doi: 10.3390/nu7043054. (IF: 4.546)
68. Duo Lv, Dan-Dan Zhang, Hao Wang, Yan Zhang, Li Liang, Junfen Fu, Feng Xiong, Ge-Li Liu, Chun-Xiu Gong, Fei-Hong Luo, Shao-Ke Chen, Zhen-Li Li, Yi-Min Zhu. Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population. Gene. 2015 Apr 15;560(2):149-55. doi: 10.1016/j.gene.2015.01.054. (IF: 2.984)
69. Junfen Fu*, Jianfeng Liang, Xuelian Zhou, Heranmaye C. Prasad, Juhua Jin, Guanping Dong, Susan Rogers Rose. Impact of BMI on gonadorelin-stimulated LH peak in premenarcheal girls with idiopathic central precocious puberty. Obesity. 2015 Mar; 23(3):637-643. doi: 10.1002/oby.21010. (IF: 4.042)
70. Yangli Dai, Junfen Fu*, Li Liang, Chunxiu Gong, Feng Xiong, Feihong Luo, Geli Liu, Shaoke Chen. Association between obesity and sexual maturation in Chinese children: a muticenter study. International Journal of Obesity. 2014 Oct; 38(10):1312-1316. doi: 10.1038/ijo.2014.116. (IF: 5.487)
71. Phil Zeitler, Junfen Fu, Nikhil Tandon, Kristen Nadeau, Tatsuhiko Urakami, Timothy Barrett, David Maahs, International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014. Type 2 diabetes in the child and adolescent. Pediatric Diabetes. 2014 Sep; 15 Suppl 20:26-46. doi: 10.1111/pedi.12179. (IF: 4.267)
72. Min Yang, Yuyang Xu, Li Liang, Junfen Fu, Feng Xiong, Geli Liu, Chunxiu Gong, Feihong Luo, Shaoke Chen, Chunxiao Xu, Dandan Zhang, Zhengli Li, Shuai Zhang, Yan Zhang, Hao Wang, Yimin Zhu. The effects of genetic variation in FTO rs9939609 on obesity and dietary preferences in Chinese Han children and adolescents. PLoS one. 2014 Aug; 9(8):e104574. doi: 10.1371/journal.pone.0104574. (IF: 3.057)
73. Ke Huang, Li Liang, Junfen Fu*, Guanping Dong. Permanent neonatal diabetes mellitus in China. BMC Pediatrics. 2014 Jul; 14:188. doi: 10.1186/1471-2431-14-188. (IF: 2.071)
74. Weifen Zhu, Chunlin Wang, Li Liang, Zheng Shen, Junfen Fu, Peining Liu, Lanqiu Lv, Yimin Zhu. Triglyceride-raising APOA5 genetic variants are associated with obesity and non-HDL-C in Chinese children and adolescents. Lipids Health Dis. 2014 Jun 5;13:93. doi: 10.1186/1476-511X-13-93. (IF: 2.906)
75. Yueying Feng, Xiaoqin Xu, Chenbo Ji, Chunmei Shi, Xirong Guo, Junfen Fu*. Aberrant Hepatic MicroRNA Expression in Nonalcoholic Fatty Liver Disease. Cellular Physiology and Biochemistry. 2014; 34(6):1983-1997. doi: 10.1159/000366394. (IF: 5.5)
76. Lianhui Chen, Weifen Zhu, Li Liang, Xiuzhen Yang, Chunlin Wang, Yiran Zhu, Junfen Fu. Relationship between glycated haemoglobin and subclinical atherosclerosis in obese children and adolescents. Arch Dis Child. 2014 Jan;99(1):39-45. doi: 10.1136/archdischild-2013-303967. (IF: 3.041)
77. Junfen Fu*, Heranmaye C. Prasad. Changing Epidemiology of Metabolic Syndrome and Type 2 Diabetes in Chinese Youth. Current Diabetes Reports. 2014 Jan; 14(1):447. doi: 10.1007/s11892-013-0447-z. (IF: 3.996)
78. Junfen Fu*, Li Liang, Chunxiu Gong, Feng Xiong, Feihong Luo, Geli Liu, Pin Li, Li Liu, Ying Xin, Hui Yao, Lanwei Cui, Xing Shi, Yu Yang, Linqi Chen, Haiyan Wei. Chinese childrens’ diabetes status, trends and hardship. International Journal of Pediatric Endocrinology. 2013 Oct; 2013(Suppl 1):O13. doi: 10.1186/1687-9856-2013-S1-O13. (IF: 0.467)
79. Yanping Xu, Li Liang, Chunlin Wang, Junfen Fu, Peining Liu, Lanqiu Lv, Yimin Zhu. Association between UCP3 gene polymorphisms and nonalcoholic fatty liver disease in Chinese children. World J Gastroenterol. 2013 Sep 21;19(35):5897-903. doi: 10.3748/wjg.v19.i35.5897. (IF: 3.665)
80. Xiaoqin Xu, Yueying Feng, Wenxia Yuan, Ke Huang, Li Liang, Junfen Fu*. Novel Mutations in DAX1 of X-Linked Adrenal Hypoplasia Congenita Over Several Generations in One Family. Endocrine Practice. 2013 Jul; 19(4):e105-111. doi: 10.4158/EP12368.CR. (IF: 4.149)
81. Fang Zhou, Junfen Fu*, Xiaoqin Xu, Chaochun Zou, Chunlin Wang, Ke Huang, Li Liang. Short Sleep Duration as a Risk Factor for Obesity in Childhood Is Associated with Increased Leptin, Ghrelin, and Orexin Levels. Hong Kong Journal of Paediatrics (new series). 2013 Jul; 18(3): 152-158. (IF: 0.197)
82. Junfen Fu, Li Liang, Chunxiu Gong, Feng Xiong, Feihong Luo, Geli Liu, Pin Li, Li Liu, Ying Xin, Hui Yao, Lanwei Cui, Xing Shi, Yu Yang, Linqi Chen, Haiyan Wei. Status and trends of diabetes in Chinese children: analysis of data from 14 medical centers. World Journal of Pediatrics. 2013 May; 9(2):127-134. doi: 10.1007/s12519-013-0414-4. (IF: 1.228)
83. Xiumin Wang, Zheng Shen, Meichun Xu, Junfen Fu, Li Liang. A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene. Iran J Pediatr. 2013 Feb;23(1):89-94. (IF: 0.37)
84. Yangli Dai, Junfen Fu*, Fang Hong, Shan Xu, Zheng Shen. WT1 mutation as a cause of 46 XY DSD and Wilm’s tumour: a case report and literature review. Acta Paediatrica. 2011 Jul; 100(7):e39-42. doi: 10.1111/j.1651-2227.2011.02167.x. (IF: 2.58)
85. Wei Wang, Junfen Fu*, Fangqi Gong, Weihua Zhu, Zheng Shen. Rare hypertension as a result of 17α-hydroxylase deficiency. Journal of Pediatric Endocrinology & Metabolism. 2011 May; 24(5-6):333-337. doi: 10.1515/jpem.2011.008. (IF: 1.239)
86. Xiaojun Xu, Junfen Fu*, Yanlan Fang, Li Liang. Kimura Disease in Children A Case Report and a Summary of the Literature in Chinese. Journal of Pediatric Hematology Oncology. 2011 May; 33(4):306-311. doi: 10.1097/MPH.0b013e3181fce3b0. (IF: 1.146)
87. Junfen Fu*, Hongbo Shi, Lirui Liu, Ping Jiang, Li Liang, Chunlin Wang, Xiyong Liu. Non-alcoholic fatty liver disease: An early mediator predicting metabolic syndrome in obese children? World journal of gastroenterology. 2011 Feb;17(6):735-742. doi: 10.3748/wjg.v17.i6.735. (IF: 3.411)
88. Jianfang Zhu, Li Liang, Chaochun Zou, Junfen Fu. Plasma ghrelin levels and polymorphisms of ghrelin gene in Chinese obese children and adolescents. Irish Journal of Medical Science. 2010 Sep; 179(3):345-349. doi: 10.1007/s11845-010-0494-2. (IF: 0.827)
89. L. G. Petrich de Marquesini, Junfen Fu, K. J. Connor, A. J. Bishop, N. E. McLintock, C. Pope, F. S. Wong, C. M. Dayan. IFN-γ and IL-10 islet-antigen-specific T cell responses in autoantibody-negative first-degree relatives of patients with type 1 diabetes. Diabetologia. 2010 Jul; 53(7):1451-1460. doi: 10.1007/s00125-010-1739-3. (IF: 7.113)
90. Junfen Fu, Yanlan Fang, Li Liang, Chunlin Wang, Fang Hong, Guanping Dong. A rabbit model of pediatric nonalcoholic steatohepatitis: the role of adiponectin. World journal of gastroenterology. 2009 Feb; 15(8):912-918. doi: 10.3748/wjg.15.912. (IF: 3.411)
91. Chaochun Zou, Li Liang, Junfen Fu. Type 1 diabetes mellitus in a child with phenobarbital hypersensitivity syndrome. Journal of Endocrinological Investigation. 2008 Apr; 31(4):360-363. doi: 10.1007/BF03346371. (IF: 3.439)
92. Chunlin Wang, Li Liang, Junfen Fu, Chaochun Zou, Fang Hong, Jinzheng Xue, Jinrui Lu, Xiangmin Wu. Effect of lifestyle intervention on non-alcoholic fatty liver disease in Chinese obese children. World journal of gastroenterology. 2008 Mar; 14(10):1598-1602. doi: 10.3748/wjg.14.1598. (IF: 3.411)
93. Junfen Fu*, Chunlin Wang, Li Liang, Dayan Colin, Guanping Dong, Fang Hong. Kikuchi-Fujimoto disease manifesting as recurrent thrombocytopenia and Mobitz type II atrioventricular block in a 7 years old girl: a case report and analysis of 138 Chinese childhood Kikuchi-Fujimoto cases with 10 years of follow-up in 97 patients. Acta Paediatrica. 2007 Dec; 96(12):1844-1847. doi: 10.1111/j.1651-2227.2007.00523.x. (IF: 2.58)
94. Guanping Dong, Li Liang, Junfen Fu, Chaochun Zou. Serum Interleukin-18 Levels are Raised in Diabetic Ketoacidosis in Chinese Children with Type 1 Diabetes Mellitus. Indian Pediatrics. 2007 Oct; 44(10):732-736. doi: 10.1007/s12098-007-0180-1. (IF: 1.163)
95. Xiumin Wang, Li Liang, Junfen Fu, Lizhong Du. Metabolic syndrome in obese children born large for gestational age. Indian Journal of Pediatrics. 2007 Jun; 74(6):561-565. doi: 10.1007/s12098-007-0108-9. (IF: 1.136)
96. Junfen Fu, Li Liang, Chaochun Zou, Fang Hong, Chunlin Wang, Xiumin Wang, Zhengyan Zhao. Prevalence of the metabolic syndrome in Zhejiang Chinese obese children and adolescents and the effect of metformin combined with lifestyle intervention. International Journal of Obesity. 2007 Jan; 31(1):15-22. doi: 10.1038/sj.ijo.0803453. (IF: 5.487)
97. Chunlin Wang, Li Liang, H.J Wang, Junfen Fu, J Hebebrand, A Hinney. Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents. Journal of Endocrinological Investigation. 2006 Nov; 29(10):894-898. doi: 10.1007/BF03349193. (IF: 3.439)
98. Junfen Fu*, Guanping Dong, Li Liang, YouJun Jiang, Liqing Chen, Colin Dayan. Early activation of the inhibin B/FSH axis in obese Tanner stage G1PH1 boys. Clinical Endocrinology. 2006 Sep; 65(3):327-332. doi: 10.1111/j.1365-2265.2006.02597.x. (IF: 3.487)
99. Li Liang, Chaochun Zou, Fang Hong, Junfen Fu, Zhengyan Zhao. Serum Adiponectin, Resistin Levels and Non-alcoholic Fatty Liver Disease in Obese Children. Endocrine Journal. 2005 Oct; 52(5):519-524. doi: 10.1507/endocrj.52.519. (IF: 1.94)
100. Junfen Fu*, Youjun Jiang, Li Liang, Hong Zhu. Risk factors of primary thyroid dysfunction in early infants born to mothers with autoimmune thyroid disease. Acta Paediatrica. 2005 Aug; 94(8):1043-1048. doi: 10.1111/j.1651-2227.2005.tb02043.x. (IF: 2.58)
101. Yuji Takeda, Junfen Fu, Kichiya Suzuki, Dai Sendo, Takeaki Nitto, Fujiro Sendo, Yoshihiko Araki. Expression of GPI-80, a β2-integrin-associated glycosylphosphatidylinositol-anchored protein, requires neutrophil differentiation with dimethyl sulfoxide in HL-60 cells. Experimental Cell Research. 2003 Jun; 286(2):199-208. doi: 10.1016/s0014-4827(03)00071-5. (IF: 3.546)
102. Shiqiang Shang, Junfen Fu, Guanping Dong, Wenlan Hong, Lizhong Du, Xilin Yu. Establishment and analysis of specific DNA patterns in 16S-23S rRNA gene spacer regions for differentiating different bacteria. Chinese medical journal. 2003 Jan; 116(1):129-133. doi: CNKI:SUN:ZHSS.0.2003-01-028. (IF: 1.596)
103. Junfen Fu, Heyong Yu, Shiqiang Shang, Wenlan Hong, Jianping Li Miaoquan Lu. A molecular biological study on identification of common septicemia bacteria using 16s–23s rRNA gene spacer regions. Journal of Zhejiang University (SCIENCE A). 2002 Feb; 3(2): 237-242. doi: 10.3969/j.issn.1673-565X.2002.02.020. (IF: 1.369)

PUBLICATIONS (in Chinese)
1. Yuan Jinna, Jin Binghan, Si Shuting, Yu Yunxian, Liang Li, Wang Chunlin, Gong Chunxiu, Liu Geli, Chen Shaoke, Fu Junfen*. Changing prevalence of overweight and obesity among Chinese children aged 6-15 from2009-2019. Chinese Journal of Pediatrics. 2021,59(11):935-941.
2. Zhang Shuai, Tang Daxing, Fu Junfen. Recent advances in clinical management of androgen insensitive syndrome. Chinese Journal of Pediatric Surgery. 2021,42(09):856-864.
3. Huang Ke, Fu Junfen*. Normal growth laws and regulation mechanism of children. Chinese Journal of Practical Pediatrics. 2021,36(08):570-573.
4. Mu Yu, Fu Junfen. Is your child overweight. Health Review. 2021(07):48-49.
5. Wang Jiali, Huang Ke, Wu Wei, Zhu Mingqiang, Lin Hu, Wu Dingwen, Dong Guanping, Fu Junfen*. A case of Wiedemann Steiner syndrome caused by a novel variation of the KMT2A gene. Chinese Journal of Pediatrics. 2021,59(06):516-518.
6. Xu Xiaoqin, Yuan Jinna, Dong Guanping, Fu Junfen*. A case report of breast development as the first manifestation combined with 46, XY complete disorder of sex development. Chinese Journal of Applied Clinical Pediatrics. 2021, 36(8): 620-622.
7. Wu Wei, Zhang Li, Dong Guanping, Fu Junfen*. The quality control system in the training of pediatricspecialist on children’s growth and developmental disorders. Zhejiang Medical Education. 2021,20(02):32-34.
8. The Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association, the Subspecialty Group of Child Health Care, the Society of Pediatrics, Chinese Medical Association, the Editorial Board, Chinese Journal of Pediatrics. Expert consensus on clinical practice of assessment and management of childhood physical development. Chinese Journal of Pediatrics. 2021, 59(3): 169-174.
9. Xu Xiaoqin, Zhou Xuelian, Chen Xuefeng, Yuan Jinna, Dai Yangli, Huang Ke, Dong Guanping, Wu Wei*, Fu Junfen. Pseudohypoparathyroidism and GNAS gene defects: clinical evaluation and molecular analysis in 20 children. Chinese Journal of Pediatrics. 2021, 59(3): 206-211.
10. Dong Guanping, Fu Junfen*. Application of gonadotropin-releasing hormone analogues in children with central precocious puberty. Chinese Journal of Applied Clinical Pediatrics. 2021,36(04):241-243.
11. Zhang Shuai, Tang Daxing, Fu Junfen*. Research progress in the correlation between androgen imprinting of the brain and androgen insensitive syndrome. Chinese Journal of Pediatrics. 2020,58(11):957-960.
12. Lin Hu, Zhou Xuelian, Zhang Li, Chen Xuefeng, Huang Ke, Dong Guanping, Fu Junfen, Wang Yingshuo, Wu Wei*. A case of hypercalcemia associated with Pneumocystis Carinii in a child. Chinese Journal of Pediatrics. 2020,58(12):1021-1023.
13. Wu Wei, Wu Wei, Gong Chunxiu, Liang Yan, Zhu Min, Xiong Hui, Fu Junfen*. Summary of the 19th National Pediatric Endocrine and Genetic Metabolic Diseases Conference in 2020. Chinese Journal of Pediatrics. 2020, 58(12):1038-1040.
14. Fu Junfen. How much is normal for a child to grow tall. Jiangsu Health Care. 2020; (08):37.
15. Gao Xiaoyan, Xu Hongzhen, Fu Junfen, Chen Jingwen, Wang Dan. Psychological experience of parents of unaccompanied children suspected of novel coronavirus infection. Journal of Nursing and Rehabilitation. 2020; 19(07):75-78.
16. Chen Xiaochun, Dai Yangli, Dong Guanping, Huang Ke, Wu Wei, Chen Xuefeng, Zhang Li, Lin Hu, Fu Junfen, Tu Qiong. A case of childhood diabetic ketoacidosis with acute respiratory distress syndrome. Chinese Journal of Emergency Medicine. 2020; 29(06):803-804.
17. Qiu Fei, Fu Yong, Feng Jingyi, Ling Yun, Gao Jiandi, Xu Hongzhen, Liu Jia, Fu Junfen. Epidemic prevention and control management in otolaryngology ward of designated children's hospital. Chinese Journal of Nursing. 2020; 55(S1):481-482.
18. Luo Feihong, Luo Xiaoping, Fu Junfen, Gong Chunxiu, Liang Yan. Expert consensus on the standardized diagnosis and management of type 1 diabetes mellitus in Chinesechildren(2020). Chinese Journal of Pediatrics. 2020;58(6):447-454.
19. Wang Jinling, Dong Guanping, Huang Ke, Wu Wei, Fu Junfen*. Treatment for 21-hydroxylase deficiency of congenital adrenal hyperplasia and the growth balance in children. Chinese Journal of Practical Pediatrics. 2020; 35:450-455.
20. Wang Chunlin, Fu Junfen, Liang Li. Advances in the study of drugs to improve growth of children with short stature. Chinese Journal of Practical Pediatrics. 2020; 35:460-464.
21. Liu Jia, Zhao Hangyan, Huang Jinjin, Ye Sheng, Wang Wei, Fu Junfen, Qiu Fei, Fu Yong. Respiratory foreign body surgery for children with 2019 novel coronavirus infection. Chinese Journal of Emergency Medicine. 2020(04):494-497.
22. Chinese Medical Doctor Association Society of Pediatrician, Endocrinology, Genetics and Metabolism Subgroup; Chinese Medical Society, Pediatric Endocrinology, Genetics and Metabolism Subgroup, Gong Chunxiu*, Fu Junfen*. Recommendations for prevention and management of children and adolescent with diabetes during coronavirus disease (COVID‑19) pandemic. Chinese Journal of Diabetes Mellitus.2020,12(04) : 211-215.
23. Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases Society of Pediatrics, Chinese Medical Doctor Association; Subspecialty Group of Emergency Medicine, Society of Pediatrics, Chinese Medical Association. Recommendations on the management of inpatient hyperglycemia in children and adolescents under special circumstances. Chinese Journal of Diabetes Mellitus. 2020,12 (10): 765-771.
24. Zhou Xuelian, Luo Feihong, Luo Xiaoping, Gong Chunxiu, Fu Junfen*. Recommendations on the identification and transfer of children with critical diabetes during the COVID-19 outbreak. Chinese Journal of Contemporary Pediatrics. 2020; 22:285-289.
25. Wang Tianlin, Fu Junfen*, Shu Qiang, Fu zangzang, Shan Jiani. Thinking of the coping strategies for novel coronavirus pneumonia and children’s influenza in autumn and winter. Zhejiang Medical Journal. 2020; 6:602-607.
26. Ji Yinwen, Mao Jianhua, Fu Junfen, Shu Qiang, Mao Shanshan. Exploring and thinking of emergency scientific research management practice in designated hospital under the novel coronavirus pneumonia. Zhejiang Medical Journal. 2020; 6:604-607.
27. Ye Qing, Li Wei, Zhou Mingming, Fu Junfen, Shu Qiang, Gong Fangqi, Shang Shiqiang. Prevention and consideration for the biosafety of laboratory testing under epidemic condition. Chinese Journal of Laboratory Medicine. 2020; 4:383-385.
28. Wang Xiaohao, Tong Xinfa, Fu Junfen, Wang Wei, Li Fubang, Chen Zhimin, Xu Hongzhen, Chen Shuohui, Wang Tianlin, Yu Gang, Lai Cai, Shu Qiang. Discussions on the emergency medical procedure of children’s hospitals against COVID-19 epidemic. Chinese Journal of Hospital Administration. 2020; 4: 298-301.
29. Xu Hongzhen, Chen Shuohui, Fu Junfen, Shu Qiang, Chen Zhimin, Sun Wei, Wang Dan, Zhu Haihong, Zhou Hongqin, Huang Guolan, Fu Zangzang, Zhao Hangyan, Wang Bin, Wu Xiaoqing, Liang Yuqin, Huang Yufen, Gu Meihong, Wangwei. Advices on the prevention and control of nosocomial infection of COVID-19 within children’s hospitals. Chinese Journal of Hospital Administration. 2020; 4:316-319.
30. Chen Zhimin, Fu Junfen*, Shu Qiang, Wang Wei, Chen Yinghu, Hua Chunzhen, Li Fubang, Lin Ru, Tang Lanfang, Wang Tianlin, Wang Yingshuo, Xu Weize, Yang Zihao, Ye Sheng, Yuan Tianming, Zhang Chenmei, Zhang Yuanyuan. Diagnosis and treatment recommendation for pediatric COVID-19 (the second edition). Journal of Zhejiang University (Medical Sciences). 2020; 2:139-146.
31. Zhang Xiaoyan, Sun Wei, Shang Shiqiang, Mao Jianhua, Fu Junfen, Shu Qiang, Jiang Kewen. Principles and suggestions on biosafety protection of biological specimen preservation during prevalence of COVID-19. Journal of Zhejiang University (Medical Sciences). 2020; 2:170-177.
32. The Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association, The Subspecialty Group of Neurology, the Society of Pediatrics, Chinese Medical Association, The Subspecialty Group of Rehabilitation, the Society of Pediatrics, Chinese Medical Association, Editorial Board of Chinese Journal of Applied Clinical Pediatrics, Xiong Hui*, Jiang Yuwu*, Fu Junfen*, Xiao Nong*. Recommendations for prevention and management of children with neuromuscular disorders during the epidemic period of corona virus disease (COVID-19). Chinese Journal of Applied Clinical Pediatrics. 2020,35(02): 125-129.
33. The Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Doctor Association, The Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association, Gong Chunxiu*, Luo Xiaoping*, Fu Junfen*. The inpatients treatment strategy of diabetic children and adolescents combined with coronavirus disease. Chinese Journal of Applied Clinical Pediatrics. 2020,35(02) : 133-138.
34. Yuan Tianming, Wang Zhengping, Fu Junfen*, Shu Qiang, Bai Xiaoxia, Li Yang, Xu Lijun, Zhang Suying. Suggestions on diagnosis, treatment, prevention and control of novel coronavirus infection during perinatal period. Chinese Journal of Emergency Medicine. 2020; 3:331-335.
35. Chen Zheng, Du Lizhong, Fu Junfen, Shu Qiang, Chen Zhimin, Shi Liping, Wang Wei, Chen Shuohui, Ma Xiaolu, Ye Sheng, Sun Wei, Chen Mingyan, Zhu Haihong, Huang Guolan, Luo Feixiang. Emergency plan for inter-hospital transfer of newborns with SARS-CoV-2 infection. Chinese Journal of Contemporary Pediatrics. 2020; 3:226-230.
36. Hu Yaoqin, Huang Jinjin, Wang Jinhu, Tang Daxing, Dou Jinfa, Chen Qingjiang, Wang Wei, Chen Zhimin, Fu Junfen, Fang Xiangming, Shu Qiang. Anesthesia management in pediatric populations suspected of or diagnosed with SARS-CoV-2 infection. Journal of Clinical Pediatric Surgery. 2020; 2:111-114.
37. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association. Clinical practice guidelines for Noonan syndrome. Chinese Journal of Medical Genetics. 2020; 3:324-328.
38. The Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association, Fu Junfen*, Luo Xiaoping. Expert consensus on the diagnosis and management of growth hormone deficiency during the transition period. Chinese Journal of Pediatrics. 2020; 6:455-460.
39. Fu Junfen, Huang Ke. Correctly understand the role of bone age in children's height prediction. Chinese Journal of Child Health Care. 1-3. http://kns.cnki.net/kcms/detail/61.1346.R.20200227.1536.006.html.
40. Dong Guanping, Fu Junfen. Exploration and Practice of the Construction of the Quality Control Center for Children's Growth and Development in Zhejiang Province. Chinese Journal of Child Health Care. 1-4. http://kns.cnki.net/kcms/detail/61.1346.R.20200227.1536.004.html.
41. Wu Dehua, Yuan Jinna, Dong Guanping, Wu Dingwen, Yang Rongwang, Sun Liying, Tang Daxing, Fu Junfen*. Preliminary investigation of gender assignment in 46, XY disorders of sex development with severe male undermasculinisation. Chinese Journal of Pediatrics. 2019; 10:786-791.
42. Wang Yuting, Zheng Rongxiu, Liu Geli, Jiang Lihong, Wei Ying, Wang Qian, Liu Shuo, Fu Junfen*. The age of menarche and related factors of primary and middle school girls in Tianjin. Chinese Journal of School Health. 2019; 40(12):1858-1861.
43. Wu Wei, Wu Wei, Gong Chunxiu, Liang Yan, Zhu Min, Xiong Hui, Luo Xiaoping, Fu Junfen*. Summary of the 18th National Pediatric Endocrine and Genetic Metabolic Disease Academic Conference. Chinese Journal of Pediatrics. 2019; (12):982-983.
44. Zhan Shumin, Huang Ke, Fu Junfen*. Thinking about the diagnosis and treatment of central precocious puberty in children. Chinese Journal of Family Planning & Gynecotokology. 2019; 11(11):10-11.
45. Zhang Jianwei, Xu Jinliang, Fu Junfen*. Analysis of free fatty acid profile characteristics of children with non-alcoholic fatty liver disease. Chinese Journal of Rural Medicine and Pharmacy. 2019; 26(18):15-16.
46. Wu Dehua, Tian Hongjuan, Tang Daxing, Fu Junfen, Dong Guanping, Wu Dingwen, Yuan Jinna, Yang Rongwang, Sun Liying. Analysis of the role of AR gene mutation androgen insensitivity syndrome related factors in gender distribution. Journal of Clinical Pediatric Surgery. 2019; 18(05):387-394.
47. Zhao Ningning, Dong Guanping, Wu Wei, Yuan Jinna, Zhang Li, Chen Xuefeng, Fu Junfen*. A case report of adolescent-onset adult diabetes type 6 (MODY6) caused by a new mutant gene. Chinese Journal of Practical Pediatrics. 2019; 34(05):438-441.
48. Zhou Xuelian, Jia Junjun, Dong Guanping, Fu Junfen*. Research progress of extracellular vesicles in non-alcoholic fatty liver disease. Chinese Journal of Practical Pediatrics. 2019; 34(02):140-143.
49. The Subspecidlty Group of Endocrinological Hereditary and Metabolic Disease the Society of Pediatrics Chinese Medical Association, Fu Junfen*, Luo Xiaoping. Expert consensus on the diagnosis and management of monogenic diabetes in children and adolescents. Chinese Journal of Pediatrics. 2019; 7:508-514.
50. Zhang Jing, Yuan Ke, Ding Shuxia, Kong Yuanmei, Zhu Jianfang, Fang Yanlan, Liang Li, Fu Junfen, Wang Chunlin. Hyperglycemia caused by mutation of GCK gene in 10 patients analysis of clinical and mutation characteristics. Chinese Journal of Pediatrics. 2019; 6:440-444.
51. Zhang Jianwei, Zhao Ningning, Peng Wei, Huang Ke, Dong Guanping, Fu Junfen*. Analysis of the cut point of peak level of luteinizing hormone in gonadotropin-releasing hormone agonist test in obese girls with precocious puberty. Chinese Journal of Applied Clinical Pediatrics. 2019; 8:591-594.
52. Editorial Board of "Consensus guidelines on nutritional management in pediatric and adolescent diabetes (edition 2018)". Consensus guidelines on nutritional management in pediatric and adolescent diabetes (edition 2018). Chinese Journal of Diabetes Mellitus. 2018,10(9): 569-577.
53. Xu Xiaohua, Dong Guanping, Wu Wei, Huang Ke, Jin Wei, Yao Qihong, Wang Ling, Fu Junfen*. Study on the predictive value of serum uric acid in obese boys with metabolic syndrome. Chinese General Practice. 2018; 21(22):2707-2711.
54. Zhou Xuelian, Fu Junfen*. Expert consensus on the diagnosis and treatment of non-alcoholic fatty liver disease in children. Chinese Journal of Practical Pediatrics. 2018; 33(07):487-492.
55. Zhang Jianwei, Dong Guanping, Fu Junfen. A case of partial deletion of 18p combined with growth hormone deficiency. Chinese Journal of Medical Genetics. 2017; 34(06):944.
56. Wu Wei, Fu Junfen. Chinese expert consensus on the diagnosis and treatment of type 2 diabetes in children and adolescents. Chinese Journal of Pediatrics. 2017; 55(06):404-410.
57. Shi Hongbo, Fu Junfen*, Huang Yao, Liu Lirui. Effect of calcium-independent phospholipase A2 inhibitor in reducing hepatocyte lipoapoptosis and improving insulin resistance. Chinese Journal of Hepatology. 2017; 1:27-31.
58. Xu Xiaohua, Dong Guanping , Wu Wei, Huang Ke , Hu Jia, Yao Qihong , Wang Ling, Fu Junfen*. Value of serum uric acid combined with age, waist circumference and body mass index in the prediction of metabolic syndrome in obese children. Journal of Applied Clinical Pediatrics. 2017; 8:585-590.
59. Zhu Jianfang, Liang Li, Fu Junfen, Gong Chunxiu, Xiong Feng, Liu Geli, Luo Feihong, Chen Shaoke. Influence of Lipid Metabolism on Risk Factors of Non-lipid Cardiovascular Diseases. The 13th Jiangsu-Zhejiang-Shanghai Pediatrics Academic Conference and the 2016 Zhejiang Medical Association Pediatrics Conference Paper Collection. 2016:2.
60. Tian Hongjuan, Zhang Jianwei, Wu Dehua, Tang Daxing, Fu Junfen*. Advances in the diagnosis and hormone replacement treatment of 46, XY disorders of sex development. National Journal of Andrology. 2016; 9:843-849.
61. Tu Miaoying, Wang Xiumin, Dong Guanping, Fu Junfen, Mao Liying. Expression of Clock, Bmal1 mRNA and levels of Insulin, IGF-1 in umbilical and placental blood of small for gestational age newborns. Zhejiang Medical Journal. 2016; 13:1057-1060.
62. The Subspecialty Group of Endocrinologic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association. Expert consensus on diagnosis and treatment of Prader-Willi syndrome in China. Chinese Journal of Pediatrics. 2015; 6:419-424.
63. Fu Junfen. Interpretation of the 2015 International Adolescent PCOS Diagnosis and Treatment Consensus. 2015 "Focus on Diagnosis and Treatment of Endocrine Diseases" National Continuing Education Workshop Paper Collection. 2015:6.
64. Fu Junfen. Clinical characteristics and treatment strategies of type 2 diabetes in children and adolescents. Chinese Journal of Practical Pediatrics. 2015; 30(10):747-752.
65. Zhou Xuelian, Fu Junfen, Jin Juhua, Dong Guanping, Jiang Youjun, Huang Ke, Chen Xuefeng, Wu Wei. The effect of obesity on the peak value of luteinizing hormone and related hormones in GnRH provocation test in gir


X
  • Ken-ichirou Morohashi, Japan
Affiliation
Graduate School of Medical Sciences, Kyushu University
Session
[Symposium 3: Adrenal/DSD] Oct. 6, 2022 (Thu.) 15:45-17:15 - Speaker
Topic
The New Perspectives of the NR5A1/Ad4BP Role for the Adrenal Function
Biography
Name: Ken-ichirou Morohashi
Nationality: Japan
Institution: Graduate School of Medical Sciences, Kyushu University

Education:
1976-1981 Department of Biology, Faculty of Science, Kyushu University
1981 March Awarded the degree of Bachelor of Science
1981-1986 Department of Biology, Graduate School of Science, Kyushu University
1986 March Awarded the degree of Dr. Sci. (PhD)

Research and Professional Experience:
1986 -1996 Instructor at Department of Molecular Biology,
Graduate School of Medical Sciences, Kyushu University
1996 -2006 Professor at Department of Developmental Biology,
National Institute for Basic Biology, National Institute of Natural Sciences
1996-2006 Professor at The Graduate University for Advanced Studies
2007 -present Professor at Department of Molecular Biology, Graduate School of Medical Sciences, Kyushu University
Professor at Graduate School of Systems Life Sciences, Kyushu University
2008 -present Distinguished Professor, Graduate School of Medical Sciences, Kyushu University
2015 -2018 Vice Director, Graduate School of Systems Life Sciences

Guest Professor:
1988 Research Institute of Environmental Medicine, Nagoya University
1993 Research Institute of Environmental Medicine, Nagoya University
1999 Tsukuba University, Medical School
2000 Nagoya University, Faculty of Agriculture
Kumamoto University, Medical School
2001 Hokkaido University, Faculty of Science
2002-2005 Yamaguchi University, Medical School
2005-2011 Nagoya University, Medical School
2007-2012 Faculty of Science, Kyushu University
2007 Faculty of Pharmacology, Kanazawa University
2010-2015 Yamaguchi University, Medical School
2011 Changchun Normal University, Changchun, China
2015 Research Institute of Environmental Medicine, Nagoya University
2015-2019 Fukushima Prefecture Medical School
2017 Faculty of Agriculture, Kobe University
2018 Faculty of Science, Brawijaya University (Indonesia)

Memberships and Board members:
Japanese Society of Molecular Biology
Japanese Endocrine Society (board member of directors from 2013)
Japanese Biochemical Society
Japanese Steroid Hormone Society (board member of directors from 2001)
Japanese Reproductive Endocrinology Society (board member of directors from 2013)
Endocrine Society

Editorial Activity of Scientific Journal:
Journal of Biochemistry; Advisory Board, Jan, 2000-Dec, 2001
Endocrinology; Editorial Board, Jan, 2006- Dec 31, 2008
Sexual Development; Section Editor, 2006-
Molecular Endocrinology; Editorial Board, Jan 1, 2007- Dec 31, 2009
Biology of Sex Differences; Editorial Board, Jan 1, 2010-
Endocrinology; Editorial Board, Jan, 2013-2015
Endocrine J; Associate Editor-in-Chief, 2013-present

Award:
Inoue Research Award for Young Scientists 1986
Young Investigator Award from Japanese Biochemical Society 1994
Asia & Oceania Medal from British Society for Endocrinology 2007
JES (Japan Endocrinology Society) Award 2021

 
Invited lecture/Symposium: (10 invited talks selected)
1, 18th International Congress of Endocrinology, Cape Town, South Africa, Dec 1-4, 2018
Symposium, Ad4BP/SF-1 more than a regulator of adrenal steroids
Ken Morohashi
2, 17th Adrenal Cortex Conference, March 28-31, 2016, Boston, UAS
Regulation of de novo cholesterol synthesis by a nuclear receptor Ad4BP/SF-1
T Baba, H Otake, Y Ishihara, M-H Choi, M Inoue, Y Shishido, K Miyabayashi, Y Shima
and K Morohashi
3, 20th International Symposium on Microsomal and Drug Oxidations, May 18-22,
2014, Stuttgart, Germany
Dual Roles of Ad4BP/SF-1 in Steroidogenesis and Glycolysis
Takashi Baba and Ken-ichirou Morohashi
4, Endocrine Society’s 95th Annual Meeting, June 15-18, 2013, San Francisco
A Novel Landscape of Target Genes for Ad4BP/SF-1.
Ken Morohashi
5, Gordon Research Conference, 2010 Reproductive Tract Biology
Aug 15-19, 2010, Andover, Andover, New Hampshire, USA
Keynote Lecture, Molecular and Cellular Mechanisms of Testis Differentiation
Ken-ichirou Morohashi
6, 43rd Annual Meeting of the Society for the Study of Reproduction
July 28-Aug 3, 2010, Milwaukee, USA, Invited Speaker
Lineage of Testicular Leydig cells and Adrenal Cortex
K Morohashi, Z Mohamad, T Baba, K Miyabayashi, H Otake, Y Shima
7, 14th Adrenal Cortex Conference/ The Keith K Parker Memorial Symposium
June 16-18, 2010, San Diego, USA,
The Keith Parker Memorial Lecture
Ad4BP/SF-1 as the key factor for steroidogenic cell development
Ken Morohashi
8, Society for Endocrinology BES 2007, March 5-8, 2007, Birmingham, UK
Asia and Oceania Medal Lecture
From Ad4BP/SF-1 to cell and tissue differentiation.
Ken Morohashi
9, Fourth International Symposium on the Biology of Vertebrate Sex Determination
April 10-14, 2006, Hawaii, USA
Opening Lecture, Transcriptional Regulation of Genes implicated in Gonad
Development.
K Morohashi, M Kusaka, K Miyabayashi, Y Ishimaru, Z Mohamad, H Ogawa, H
Yoshioka, Y Katoh-Fukui
10, The 11th International Congress on Hormonal Steroid/7th International Congress
on Hormones and Cancer, Oct. 21-25, 2002, Fukuoka, Japan
Plenary Lecture, Molecular Mechanisms underlying Steroidogenic Tissue
Differentiation
K. Morohashi, M. Zubair, H. Mizusaki, T Suzuki, N. Sugiyama, H. Yoshioka, Y. K.
Kitamura, Katoh-Fukui
 
List of publication (10 papers selected)

1, Molecular Cloning and Nucleotide Sequence of cDNA for mRNA of Mitochondrial Cytochrome P-450(SCC) of Bovine Adrenal Cortex.
K Morohashi, Y Fujii-Kuriyama, Y Okada, K Sogawa, T Hirose, S Inayama, T Omura
Proc. Natl. Acad. Sci. USA 81, 4647-4651, 1984
2, Ad4BP Regulating Steroidogenic P-450 Gene is a Member of Steroid Hormone Receptor Superfamily.
S Honda, K Morohashi, M Nomura, H Takeya, M Kitajima, T Omura
J. Biol. Chem. 268, 7494-7502, 1993
3, Mutations of Arx/ARX cause abnormal migration and differentiation of GABAergic interneurons and abnormal development of testes in mice, and X-linked lissencephaly with abnormal genitalia in humans.
K Kitamura, M Yanazawa, N Sugiyama, H Miura, A Iizuka-Kogo, M Kusaka, R Suzuki, Y Kato-Fukui, K Kamiirisa, K Omichi, M Kasahara, H Yoshioka, T Ogata, T Fukuda, I Kondo, M Kato, WB. Dobyns, M Yokoyama, K Morohashi
Nature Genetics 32, 359-369, 2002
4, Two-step regulation of Ad4BP/SF-1 gene transcription during fetal adrenal development; initiation by a Hox-Pbx1-Prep1 complex and maintenance via autoregulation by Ad4BP/SF-1.
M Zubair, S Ishihara, S Oka, K Okumura, K Morohashi
Mol. Cell. Biol. 26, 4111-4121, 2006
5, CXorf6 is a causative gene for hypospadias.
M Fukami, Y Wada, K Miyabayashi, I Nishino, T Hasegawa, G Camerino, C Kretz, A Buj-Bello, J Laporte, G Yamada, K Morohashi, T Ogata
Nature Genetics 38, 1369-1371, 2006
6, Mechanism of asymmetric ovarian development in chick embryos.
Y Ishimaru, T Komatsu, M Kasahara, Y Katoh-Fukui, Y Toyama, M Maekawa, K Toshimori,
RAS Chandraratna, K Morohashi*, H Yoshioka* (*equally contributed to this work.)
Development 135, 677-685, 2008.
7, Developmental links between fetal and adult adrenal cortex revealed by lineage tracing.
M Zubair, KL. Parker, K Morohashi
Mol. Cell. Biol. 28, 7030-7040, 2008
8, Glycolytic gene as the targets of nuclear receptor Ad4BP/SF-1
T Baba, H Otake, T Sato, K Miyabayashi, Y Shishido, C-Y Wang, Y Shima, H Kimura, M
Yagi, Y Ishihara, S Hino, H Ogawa, M Nakao, T Yamazaki, D Kang, Y Ohkawa, M Suyama,
B-C Chung, K Morohashi
Nature Communications 5, 3634, 2014
9, Ad4BP/SF-1 regulates cholesterol synthesis to boost the production of steroids.
T Baba, H Otake, M Inoue, T Sato, Y Ishihara, J-Y Moon, M Tsuchiya, K Miyabayashi,
H Ogawa, Y Shima, L Wang, R Sato, T Yamazaki, M Suyama, M Nomura, M-H Choi,
Y Ohkawa, K Morohashi
Communications Biology 1, 18, DOI: 10.1038/s42003-018-0020-z, 2018
10, Sex differences in metabolic pathways are regulated by Pfkfb3 and Pdk4 expression in rodent
muscle.
A Christianto, T Baba, F Takahashi, K Inui, M Inoue, M Suyama, Y Ono, Y Ohkawa, K
Morohashi
Communications Biology 4, 1264, 2021DOI 10.1038/s42003-021-02790-y


X
  • Kirstie Bell, Australia
Session
[Symposium 5: Type 1 DM] Oct. 7, 2022 (Fri.) 10:15-11:45 - Speaker
Topic
Population Screening: Genetics vs. Antibody Screening
Biography
My passion for working in nutrition and diabetes began as an Accredited Practising Dietitian and Credentialled Diabetes Educator. Having completed my PhD and gained international research experience with Joslin Diabetes Center & Harvard Medical School and Hunter Medical Research Institute, I am based at the University of Sydney on an NHMRC Early Career Fellowship (2017-2020). In 2020, I was awarded a Fellowship from JDRF Australia as the Principal Investigator on a pilot national general population screening program for type 1 diabetes (2020-
2023). My previous research has focused on optimising mealtime insulin dosing for dietary fat and protein in adults with T1D. This ground-breaking research has generated great interest in Australia and internationally and established me as an emerging leader in this field. Over the past 8 years, I have been invited to present my work at over 50 conferences (36 national, 15 international) including the International Congress of Endocrinology and American Diabetes Association (ADA) Scientific Sessions. To date (May 2021), I have published 25 journal articles
(22 as first author, 2 as senior author) in top-tier international, peer-reviewed journals in my field including Diabetes Care and American Journal of Clinical Nutrition. My research is influencing clinical practice. Since 2015, the outcomes of my research have been incorporated into the ADA ‘Standards of Medical Care’, the Endocrine Society’s Clinical Practice Guidelines as well as the 5th edition of ADA’s ‘Intensive Diabetes Management’ reference book.

My commitment to the translation of research into clinical practice has seen me regularly invited to present at health professional meetings across Australia including the Dietitians Association of Australia (DAA) and Australian Diabetes Educator Association (ADEA). My achievements have been recognised by my peers. For example, in 2014, I was awarded the DAA Prize for Excellence in Research and JDRF’s Early-Stage Researcher Travel Grant, and in 2015 the
Pfizer’s Australasian Paediatric Endocrine Care Research Grant.

I am actively involved in the clinical and research community. I serve as the Clinical Co-Chair of the Australasian Diabetes Congress Program Organising Committee for ADEA and I was the National Convenor for the Dietitians Australia Diabetes Interest Group (2016-2020). I am a reviewer for multiple leading journals including Diabetologia and Diabetes Care. I have supervised 3 Masters students and am mentoring a PhD student, a senior dietitian and 3 HSC Science Extension students.


X
  • Leanne M. Ward, Canada
Affiliation
University of Ottawa
Session
[Symposium 4: Bone and Calcium] Oct. 7, 2022 (Fri.) 10:15-11:45 - Speaker
Topic
Management of Glucocorticoid Associated Osteoporosis
Biography
Dr. Leanne Ward is a Professor of Pediatrics at the University of Ottawa where she has held a Research Chair in Pediatric Bone Disorders since 2010. She is the Scientific Director of the Ottawa Pediatric Bone Health Research Group, the Founder and Chair of the Canadian Consortium for Children’s Bone Health, the Medical Director of the Pediatric Genetic and Metabolic Bone Disease Clinic at the Children’s Hospital of Eastern Ontario (CHEO), and a pediatric endocrinologist in the Division of Endocrinology and Metabolism at CHEO.

Dr. Ward’s research program is dedicated to the study of bone development and the diagnosis and treatment of bone disorders in children, including osteogenesis imperfecta, rickets, achondroplasia, hypophosphatasia, and osteoporosis due to chronic illnesses (such as Duchenne muscular dystrophy). She has participated in numerous international clinical trials of novel therapeutics in rare skeletal disorders, and holds particular expertise in central imaging methodology for rare skeletal disease studies. Dr. Ward has received numerous grants and awards for her work in pediatric bone disorders including Canadian Child Health Clinician Scientist Career Development and Enhancement Awards and sustained funding from the Canadian Institutes for Health Research as PI or co-PI since 2003. In 2019, Dr. Ward was named a Fellow of the American Society of Bone and Mineral Research, an award in recognition of significant contributions to bone and mineral science.


X
  • Madarina Julia, Indonesia
Affiliation
Universitas Gadjah Mada
Session
[Symposium 7: Nutrition, Obesity & Type 2 DM] Oct. 8, 2022 (Sat.) 11:45-13:15 - Speaker
Topic
Eliminating the Double Burden of Malnutrition: The Indonesian Experience
Biography
Prof. dr. Madarina Julia, MPH, Ph.D, Sp.A(K)
Department of Child Health, Dr. Sardjito General Hospital
Faculty of Medicine, Gadjah Mada University, Indonesia

Education :
1985-1991 : Medical Doctor, Faculty of Medicine, Airlangga University, Surabaya, Indonesia
1995-2002 : Residency Training in Pediatrics, Faculty of Medicine, Gadjah Mada University,
Yogyakarta, Indonesia. Graduated as pediatrician in May 2002
1999-2000 : Master of Public Health, Umea University, Umea, Sweden
2006 : Consultant in Pediatric Endocrinology (Collegium of Indonesian Society of Pediatrician)
2008 : Ph.D, Free University, Amsterdam, The Netherlands


Professional Appointments:
November 2013 : Professor in Child Health, Department of Child Health, Dr. Sardjito General Hospital/ Faculty of Medicine, Gadjah Mada University
May 2002-present : Lecturer, Department of Child Health, Dr. Sardjito General Hospital/ Faculty of Medicine, Gadjah Mada University
1996-May 2002 : Pediatric Resident, Department of Child Health, Dr. Sardjito General Hospital/ Faculty of Medicine, Gadjah Mada University.
1992-1995 : Medical doctor in Tambang Ulang Public Health Center, District of Tanah Laut, South Kalimantan.


Publications:
1. M. Julia, M.M. van Weissenbruch, H.A. Delemarre-van de Waal, A. Surjono. Influence of socioeconomic status on the prevalence of stunted growth and obesity in Indonesian children. Food Nutr Bull 2004; 25(4):354-60. https://doi.org/10.1177/156482650402500405

2. M. Julia, M. M. van Weissenbruch, H. A. Delemarre-van de Waal, and A. Surjono. The influence of socioeconomic status on blood pressure of Indonesian prepubertal Children. Journal of Human Hypertension 2006;20: 546–48. doi:10.1038/sj.jhh.1002028

3. M. Julia, M.M. van Weissenbruch, E.P. Prawirohartono, A. Surjono, H.A. Delemarre-van de Waal. Tracking for Underweight, Overweight and Obesity from Childhood to Adolescence: A 5-Year Follow-Up Study in Urban Indonesian Children. Hormone Research 2008; 69:301–6. https://doi.org/10.1159/000114862

4. Madarina Julia. Adoption of the WHO Child Growth Standards to classify Indonesian children under 2 years of age according to nutrition status: Stronger indication for nutritional intervention. Food Nutr Bull 2009; 30(3):254-9. https://journals.sagepub.com/doi/pdf/10.1177/156482650903000306

5. Nurliyani, Madarina Julia, Eni Harmayani. Effect of arrowroot (Marantha arundinacea) cookies intervention on fecal secretory immunoglobulin-A and physical properties of children under five years. International Research Journal of Microbiology (IRJM) 2013 (ISSN: 2141-5463) Vol. 4(1) pp. 21-28. Available online http://www.interesjournals.org/IRJM

6. Lestari L.A., Setyabudi FMC. S., Julia M., Amalia L.D. Effect of Synbiotic Yogurt Made with Indigenous Probiotic Lactobacillus plantarum Mut7 and Sweet Potato Fiber (Ipomoea batatas) in Healthy Children. International Research Journal of Microbiology (IRJM) 2013; 4(3): 98-102 https://www.interesjournals.org/articles/effect-of-synbiotic-yogurt-made-with-indigenous-probiotic-lactobacillus-plantarum-mut7-and-sweet-potato-fiber-ipomoea-ba.pdf

7. Madarina Julia, Diatrie Anindyajathi, Asal Wahyuni E. Mulyadi, Martin W. Weber, Setya Wandita, S. YatiSoenarto. An evaluation of pre-service training for the
Integrated Management of Childhood Illness (IMCI) in medical schools in Indonesia. Educ. Res. J. 2013; 3(5): 129-137 (May 2013). Available on line http://resjournals.com/ERJ/Content/Cont2013/May.htm

8. Rina Susilowati, Dian Eurike Septyaningtrias, Cut Gina Inggriyani, Harry Freitag Luglio Muhammad, Madarina Julia. Association between insulin resistance with UCP2 -866G/A, UCP2 45BP INS/DEL, UCP3 -55C/T, GHSR1A RS2922126, GHSR1A RS509035 and PRO12ALA PPARΓ2 gene polymorphisms in obese female adolescents in Yogyakarta,Indonesia. International Journal of Pediatric Endocrinology 2013 (Suppl1):O36. http://www.ijpeonline.com/content/2013/S1/O36

9. Harry Freitag Luglio, Cut Gina Inggriyani, Emy Huriyati, Madarina Julia, Rina Susilowati. Association of SNPs in GHSR rs292216 and rs509035 on dietary intake in Indonesian obese female adolescents. Int J Mol Epidemiol Genet 2014;5(4):195-9 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348703/ or www.ijmeg.org /ISSN:1948-1756/IJMEG0004781

10. Kurnia Febriana, Neti Nurani, Madarina Julia. Body mass index and waist-to-height ratio cut-offs as predictors of high blood pressure in adolescents. Medical Journal of Indonesia 2015;24:30-5 http://dx.doi.org/10.13181/mji.v24i1.1200

11. Nurliyani, Madarina Julia, Eni Harmayani, Muthi Ikawati & Endang Baliarti. Potency of Lactobacillus plantarum Dad-13 and Sweet Potato (Ipomoea batatas) Fiber as Immunomodulator in Rats Infected With Salmonella Typhimurium. Journal of Food Research 2015; Vol. 4, No. 3. doi:10.5539/jfr.v4n3p1. URL: http://dx.doi.org/10.5539/jfr.v4n3p1

12. Wieke Apriana, Izka Sofiyya, Madarina Julia and Emy Huriyati. Relationship Between Physical Activity and Concentration of Study of Teenagers in Yogyakarta, Indonesia. Pakistan Journal of Nutrition 2016;15(3):211-6 https://scialert.net/abstract/?doi=pjn.2016.211.216

13. Perdana ST Suyoto, Emy Huriyati, Rina Susilowati, Madarina Julia. Relative validity of administered Indonesian version of the Short-Form International Physical Activity Questionnaire (IPAQ-SF) among obese adolescent’s girl population. Pakistan Journal of Nutrition 2016;15(9):816-20 https://scialert.net/abstract/?doi=pjn.2016.816.820

14. Harry Freitag Luglio, Dian Eurike, Emy Huriyati, Madarina Julia and Rina Susilowati. Gene lifestyle interaction: The role of SNPs in UCP2-866G/A and UCP3-55C/T on dietary intake and physical activity in indonesian obese female adolescents. Mediterranean Journal of Nutrition and Metabolism 2016; 9(2):87-93 https://content.iospress.com/articles/mediterranean-journal-of-nutrition-and-metabolism/mnm0061

15. Rina Susilowati, Dian Caturini Sulistyoningrum, Ni Putu Diah Witari, Emy Huriyati, Harry Freitag Luglio, Madarina Julia. Sexual dimorphism in interleukin 17A and adipocytokines and their association with insulin resistance among obese adolescents in Yogyakarta, Indonesia. Asia Pac J Clin Nutr 2016;25(Suppl 1): S93-S101. https://www.ncbi.nlm.nih.gov/pubmed/28027637

16. Helmi Tri Puji, Madarina Julia and Endy P Prawirohartono. 46 XX Ovotesticular Disorder of Sexual Development with Detected SRY (Sex determining Region Y) Gene: A Case Report. J Clin Case Rep 2016, 6:9 DOI: 10.4172/2165-7920.1000865. https://www.omicsonline.org/open-access/46-xx-ovotesticular-disorder-of-sexual-development-with-detected-srysexdetermining-region-y-gene-a-case-report-2165-7920-1000865.php?aid=81012

17. Sulistyoningrum DC, Susilowati R, Huriyati E, Witari NPD, Freitag LH, Julia M. Tumour necrosis factor-alpha and risk of cardiovascular disease among overfat Indonesian adolescents. Asia Pac J Clin Nutr 2017; 26: S50-S56. http://apjcn.nhri.org.tw/server/APJCN/26/Suppl%201/S50.pdf

18. Lestari R., Noormanto, Julia M. Left ventricular mass in offspring of diabetic mothers: at 5-7 years old. International Journal of Diabetes in Developing Countries 2018. https://doi.org/10.1007/s13410-018-0625-2 or https://link.springer.com/article/10.1007%2Fs13410-018-0625-2

19. Iskandar K., Patria S.Y., Huriyati E., Luglio F.H., Julia M., Susilowati R. Effect of FTO rs9939609 variant on insulin resistance in obese female adolescents. BMC Res Notes 2018. https://doi.org/10.1186/s13104-018-3392-8

20. Huriah T., Haryanti F., Julia M., Trisnantoro L. Home care intervention to improve nutritional status of severe acute malnourished children in Yogyakarta, Indonesia. Indian Journal of Public Health Research and Development 2018; 9: 102. http://dx.doi.org/10.5958/0976-5506.2018.00420.5

21. Pulungan A.B., Julia M., Batubara J.R.L., Hermanussen M. Indonesian national synthetic growth charts. Acta Scientific Paediatrics 2018; 1(1). https://www.actascientific.com/ASPE/pdf/ASPE-01-0006.pdf

22. Karbwang J., Koonrungsesomboon N., Torres C.E., Jimenez E.B., Kaur G., Mathur R., ..., Julia M., et al. What information and the extent of information research participants need in informed consent forms: a multi-country survey. BMC Medical Ethics. 2018; 19(79): 1-11. https://bmcmedethics.biomedcentral.com/articles/10.1186/s12910-018-0318-x

23. Lestari R.P., Sutomo R., Julia M. Precocious puberty in McCune-Albright syndrome: a case report. J Med Sci 2018; 50(3): 349-53 https://jurnal.ugm.ac.id/bik/article/view/23884

24. Scheffler C., Hermanussen M., Bogin B., … Julia M, Batubara JRL, Pulungan AB. Stunting is not a synonym of malnutrition. European Journal of Clinical Nutrition 2019. https://doi.org/10.1038/s41430-019-0439-4

25. Dimiati H., Wahab A.S., Juffrie M., Julia M., Gani B.A. Study of NT-proBNP and Hs-Troponin I biomarkers for early detection of children’s heart function of proteinenergy malnutrition. Pediatric Reports 2019; 11: 25-30. https://www.pagepress.org/journals/index.php/pr/article/view/7997

26. Fayasari A., Huriyati E., Julia M. Body Composition of Adolescent of Shorter Stature. Pakistan Journal of Nutrition 2019; 18(8): 711-5. https://scialert.net/fulltext/?doi=pjn.2019.711.715

27. Yu W., Sulistyoningrum D.C., Gasevic D., Xu R., Julia M., Murni I.K., et al. Long-term exposure to PM2.5 and fasting plasma glucose in non-diabetic adolescents in Yogyakarta, Indonesia. Environmental Pollution 2019; Feb;257:113423.https:// doi.org/10.1016/j.envpol.2019.113423

28. Murni I. K., Sulistyoningrum D. C., Susilowati R., Julia M. Risk of metabolic syndrome and early vascular markers for atherosclerosis in obese Indonesian adolescents. Paediatrics and International Child Health 2019; 40 (2); 117-123. Doi: 10.1080/20469047.2019.1697568 or https://www.tandfonline.com/doi/abs/10.1080/20469047.2019.1697568

29. Hastuti J, Rahmawati NT, Suriyanto RA, Wibowo T, Nurani N, Anindita R and Julia M. Comparison of Several Prediction Equations Using Skinfold Thickness for Estimating Percentage Body Fat in 12-15-year-old Indonesian Children. Pakistan Journal of Nutrition 2019;18(10): 922-9 https://scialert.net/abstract/?doi=pjn.2019.922.92 ...

30. Hermanussen M, Scheffler C, Pulungan AB, Batubara JRL, Julia M, Bogin B. Response to the correspondence referring to our article “Stunting is not a synonym of malnutrition” (2018EJCN0997RR) by Conny Tanjung, Titis Prawitasari, Damayanti Rusli Sjarif . European Journal of Clinical Nutrition 2020; 74: 529-31 https://doi.org/10.1038/s41430-020-0571-1 or https://www.nature.com/articles/s41430-020-0571-1

31. J Hastuti, NT Rahmawati, RA Suriyanto, T Wibowo, N Nurani, M Julia. Patterns of body mass index, percentage body fat, and skinfold thicknesses in 7-to 18-year-old children and adolescents from Indonesia. International Journal of Preventive Medicine 2020; 11: 129.

32. C Subakti, M Julia, A Triono. Duration of active epilepsy as a predictor of seizure control after relapse in child epilepsy. Paediatrica Indonesiana 2020; 60 (4): 202-7

33. Scheffler C, Hermanussen M, Bogin B, Liana DS, Taolin F, Cempaka PMVP, Irawan M, Ibbibah LF, Mappapa NK, Payong MKE, Homalessy AV, Takalapeta A, Apriyanti S, Manoeroe MG, Dupe FR, Ratri RRK, Touw SY, K PV, Murtani BJ, Nunuhitu R, Puspitasari R, Riandra IK, Liwan AS, Amandari P, Permatasari AAI, Julia M, Batubara J, Pulungan A. Correction: stunting is not a synonym of malnutrition. Eur J Clin Nutr 2020; 74(3):535. Doi: 10.1038/S41430-019-0520-Z.

34. ES Rahayu, BJI Kandarina, M Julia. Source of energy intake of Papuan and non-Papuan high-school students in Jayapura: their association with risk for overweight/obesity. Jurnal Gizi Klinik Indonesia 2020;16 (4): 137-142

35. Aman B Pulungan, Frida Soesanti, Agustini Utari, Niken Pritayati, Madarina Julia, Diadra Annisa, Attika A. Andarie, I Wayan Bikin. Preliminary study of newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia in Indonesia 2020. Ejournal Kedokteran Indonesia; 2020.

36. Scheffler C., Hermanussen M., Soegianto S. D. P., Homalessy A. V., Touw S. Y., ... , Julia M. Stunting as a synonym of social disadvantage and poor parental education. Int. J. Environ. Res. Public Health 2021; 18(1350): 1-13

37. Wibowo T, Nurani N, Hastuti J, Anggraini A, Susilowati R, Hakimi M, Julia M, van Weissenbruch MM. Maternal and neonatal factors affecting bone mineral content of Indonesian term newborns. Front Pediatr 2021; 9: 680869

38. Rio Kusuma, Jaka Widada, Emy Huriyati, Madarina Julia. Naturally acquired lactic acid bacteria from fermented cassava improves nutrient and anti-dysbiosis activity of soy tempeh. Open Access Macedonian Journal Of Medical Sciences 2021; 9(Dec):1148-1155

39. Indah K Murni, Dian C Sulistyoningrum, Danijela Gasevic, Rina Susilowati, Madarina Julia. Sex differences in the association of vitamin D and metabolic risk factors with carotid intima-media thickness in obese adolescents. Plos One 2021; 16(10)

40. Budyarini Prima Sari, Kristia Hermawan, Madarina Julia. Multiple electrolyte imbalance responsive to Cyclooxygenase-2 Selective Inhibitor in a frequently relapsing nephrotic syndrome patient: a case report. Pediatric Nephrology. 2021; 36(9); 2918-9

41. Annang Giri Moelyo, Mei Neni Sitaresmi, Madarina Julia. Secular trends in Javanese adult height: the roles of environment and educational attainment. BMC Public Health; 2022; 22,(712)

42. Neti Nurani, Tunjung Wibowo, Rina Susilowati, Janatin Hastuti, Madarina Julia, Mirjam M van Weissenbruch. Growth of exclusively breastfed small for gestational age term infants in the first six months of life: a prospective cohort study. BMC Pediatrics (2022) 22:73


Thesis:
M. Julia. Pattern and determinants of nutritional status in children under two years of age: a cross sectional study in Belu, East Nusa Tenggara, Indonesia [master thesis in public health]. Umea: Centre for Public Health, Department of Public Health and Clinical Medicine, Umea University; 2000 (Report Series 2000:9)

Madarina Julia. Breastfeeding helps protecting children in the poorer area from malnutrition: a comparison study of nutritional status in children under two years of age in Belu, East Nusa Tenggara And Purworejo, Central Java, Indonesia. Thesis for residency in pediatric, Faculty of Medicine, Gadjah Mada University, 2002.

Madarina Julia. The impact of socio-economic status on the risk of malnutrition and overweight in Indonesian children: an epidemiological study [Ph.D thesis]. Vrije Universiteit, Amsterdam, The Netherlands
ISBN: 978-979-3173-00-9

Awards:
July 2002: The winner of the Young Researcher Award 12th National Congress of Child Health and 11th Asean Pediatric Federation Conference in Bali, Indonesia.

December 2007: Best poster presenter in International Seminar on Obesity held by School of Health Nutrition, Faculty of Medicine Gadjah Mada University in collaboration with DANONE NUTRITION INSTITUTE INDONESIA in Yogyakarta, Indonesia

Course:
 Intensive course on immunology, held by Faculty of Medicine, Gadjah Mada University, in collaboration with Vrije Universiteit Amsterdam, September 2003.

- Training of Master Trainers on the New WHO Child Growth Standards in the WHO South-East Asia Region. WHO-SEARO, October-November 2007

- Australian Leadership Awards Fellowship programme: Regional Collaboration for Childhood Obesity Prevention Research. 28 July-25 August 2011, Sydney, Australia

Workshops:
- Asia Pacific Paediatric Endocrine Society (APPES) Fellows Meeting, Taipei, Taiwan. December 2007
- SEA-ORCHID workshop on the Development of Clinical Practice Guidelines. Fakultas Kedokteran Universitas Gadjah Mada Yogyakarta dan SEA-ORCHID INDONESIA, March 2007


X
  • Natasha Heather, New Zealand
Session
[Symposium 8: Neonatal Endocrinology] Oct. 8, 2022 (Sat.) 14:15-15:45 - Speaker
Topic
Newborn Screening for Congenital Hypothyroidism
Biography
Dr. Natasha Heather, MBChB FRACP MD PGDipPH

PROFESSIONAL SUMMARY
I am a consultant paediatrician, internationally respected clinician-researcher and skilled communicator. My primary role is Clinical Lead to the New Zealand national newborn metabolic screening programme. I have expertise in clinical, laboratory and public health aspects of newborn screening and particular interests in regional harmonisation and quality improvement. My professional roles support best practice and outcomes from newborn screening.

EDUCATION AND QUALIFICATIONS
 Postgraduate Diploma in Public Health (distinction), University of Auckland, 2021
 Doctor of Medicine, Liggins Institute, University of Auckland, 2013
 Fellowship to the Royal Australasian College of Physicians, 2011
 Diploma in Child Health, University of Otago, 2002
 Bachelor of Medicine and Bachelor of Surgery, University of Auckland, 2000

EMPLOYMENT
 2015 - current:
o Paediatric Endocrinologist and Clinical Lead, National Newborn Metabolic Screening Programme, LabPlus, Auckland City Hospital
o Honorary Senior Fellow, Liggins Institute, University of Auckland
 2013 - 2015: Locum Consultant Endocrinologist, Starship Children’s Hospital
 2014 - 2015: Paediatric Endocrinologist, KidzHealth (private practice)

POST-GRADUATE TRAINING
 2011 - 2012: Clinical Research Fellow, Liggins Institute, University of Auckland
 2010: Paediatric Endocrine Fellow, Wellington Hospital
 2008 - 2009: Clinical Research Fellow, Starship Children’s Hospital
 2007: Paediatric Registrar, Starship Children’s Hospital
 2006-2007: Paediatric Registrar, Christchurch Hospital
 2003-2005: Paediatric Registrar, Auckland region
 2003: Senior House Officer, Starship Children’s Hospital
 2001-2002: House Officer, Northland Base Hospital

PROFESSIONAL MEMBERSHIPS
• New Zealand Paediatric Endocrine Society
• New Zealand Paediatric Society
• Australasian Paediatric Endocrine Group
• Human Genetic Society Australasia
• International Society of Newborn Screening

PROFESSIONAL ACTIVITIES
• Ministry of Health, National Screening Unit
o Newborn metabolic screening technical working group, 2015-current
• Australasian Paediatric Endocrine Group
o Co-chair of the laboratory subcommittee, 2019-current
o Member thyroid working group, 2019-current
o Member disorders of sexual differentiation subcommittee, 2016-2020
• Human Genetics Society of Australasia
o Chair NBS committee, 2022-current
• Clinical Laboratory Standards Institute
o Chair-holder NBS11 document development committee, newborn screening guideline for CAH, 2020 - ongoing
o Contributor NBS10, document development committee, newborn screening guideline for CH, 2018 - ongoing
• Royal College of Pathologists Australasia
o Quality assurance programme, inborn errors (bloodspot) advisory committee, 2021-current
• International Journal of Neonatal Screening
o Editorial board, 2021-current
• Teaching roles
o Post-graduate Obstetric diploma, University of Auckland, 2018-current
o Neonatal nursing, Auckland University of Technology, 2019-current
o NZ Paediatric Endocrine Society annual workshop, 2016-current
• Starship Children’s Hospital Clinical Guidelines
o CH screening assessment and follow-up protocol, updated 2021
o Investigation of hypoglycaemia, 2018
o Management of acute post-surgical central diabetes insipidus, 2015
• Mentor Wahine Connect, 2018-current
• Co-director of the Royal Australasian College of Physicians Paediatric teaching program (Auckland), 2014

AWARDS AND DISTINCTIONS
• International Society of Neonatal Screening, Dussault medal, 2018
o Awarded for overall body of work evaluating screening and long-term outcomes for endocrine conditions and leadership towards regional Australasian harmonization of screening
• Auckland Hospital research excellence awards, finalist, 2016
o Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994–2013.
• Australasian Society of Inborn Errors of Metabolism, best poster, 2016
o Formulation of parenteral nutrition is associated with a high rate of out-of-range newborn metabolic screening tests in NICU babies
• Australasian Paediatric Endocrine Group, young investigator award, 2011
o Traumatic brain injury and hypopituitarism - a battered myth?
• Auckland Hospital research awards, young investigator award, 2011
o Traumatic brain injury and hypopituitarism - a battered myth?

RESEARCH GRANTS
• Australasian Paediatric Endocrine Group
• Australasian Society of Inborn Errors of Metabolism
• Pfizer (industry)
• NZ Ministry of Health, National Screening Unit
• Starship Children’s Hospital Fellowship Foundation

PEER REVIEWED PUBLICATIONS

1. Heather N, de Hora M, Brothers S, Grainger P, Knoll D, Webster D. Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience. International Journal of Neonatal Screening. 2022; 8(2):33.

2. Heather N, Morgan L, Knoll D, Shore K, de Hora M, Webster D. Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results. International Journal of Neonatal Screening. 2022 Jun;8(2):30.

3. Mathews DM, Peart JM, Johnson NP, Sim RG, Heather N, Webster D, O’Sullivan S, Hofman PL. Hysterosalpingography with Oil-Soluble Contrast Medium Does Not Increase Newborn Hypothyroidism. International Journal of Endocrinology. 2022 Feb 22;2022.

4. de Hora MR, Heather N, Webster D, Albert BB, Hofman PL. Birth Weight–or Gestational Age–adjusted Second-tier LCMSMS Cutoffs Improve Newborn Screening for CAH in New Zealand. The Journal of Clinical Endocrinology & Metabolism. 2021 Sep;106(9):e3390-9.

5. Zacharin M, Lim A, Gryllakis J, Siafarikas A, Jefferies C, Briody J, Heather N, Pitkin J, Emmanuel J, Lee KJ, Wang X. Randomized Controlled Trial Evaluating the Use of Zoledronic Acid in Duchenne Muscular Dystrophy. The Journal of Clinical Endocrinology & Metabolism. 2021 Aug;106(8):2328-42.

6. Heather N, Nordenstrom A. Newborn Screening for CAH—Challenges and Opportunities. International Journal of Neonatal Screening. 2021 Mar;7(1):11.

7. de Hora MR, Heather NL, Patel T, Bresnahan LG, Webster D, Hofman PL. Implementing steroid profiling by liquid chromatography‐tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand. Clinical Endocrinology. 2021 Jun;94(6):904-12.

8. West R, Hong J, Derraik JG, Webster D, Heather N, Hofman PL. Newborn screening TSH values less than 15 mIU/L are not associated with long-term hypothyroidism or cognitive impairment. The Journal of Clinical Endocrinology & Metabolism. 2020 Sep;105(9):e3329-38.

9. de Hora MR, Heather N, Patel T, Bresnahan LG, Webster D, Hofman PL. Measurement of 17-hydroxyprogesterone by LCMSMS improves newborn screening for CAH due to 21-hydroxylase deficiency in New Zealand. International journal of neonatal screening. 2020 Mar;6(1):6.

10. Held PK, Bird IM, Heather N. Newborn screening for congenital adrenal hyperplasia: Review of factors affecting screening accuracy. International journal of neonatal screening. 2020 Sep;6(3):67.

11. Heather N, Webster D. It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance. International Journal of Neonatal Screening. 2020; 6(2):47.

12. Heather N, Derraik JG, Webster D, Hofman PL. The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening. Clinical endocrinology. 2019 Sep;91(3):456-63.

13. Heather N, Hofman PL, de Hora M, Carll J, Derraik JG, Webster D. Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism. Clinical Endocrinology. 2017 Mar;86(3):431-7.

14. Heather N, Hofman PL, Derraik JG, Cutfield WS. Comments on Auble et al. regarding hypopituitarism in pediatric survivors of inflicted traumatic brain injury. Journal of neurotrauma. 2016 Jul 1;33(13):1278.

15. Heather N, Seneviratne SN, Webster D, Derraik JG, Jefferies C, Carll J, Jiang Y, Cutfield WS, Hofman PL. Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994–2013. The Journal of Clinical Endocrinology & Metabolism. 2015 Mar 1;100(3):1002-8.

16. Albert B*, Heather N*, Derraik JG, Cutfield WS, Wouldes T, Tregurtha S, Mathai S, Webster D, Jefferies C, Gunn AJ, Hofman PL. Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring. The Journal of Clinical Endocrinology & Metabolism. 2013 Sep 1;98(9):3663-70.

17. Albert B*, Heather N, Cutfield W, Webster D, Gunn A, Jefferies C, Wouldes T, Roberts C, Tregurtha S, Stewart H, Mathai S. Neurodevelopmental outcomes are normal in congenital hypothyroid children diagnosed early and treated aggressively over the first three years. International Journal of Pediatric Endocrinology. 2013 Oct;2013(1):1-2.

18. Heather N, Derraik JG, Chiavaroli V, Hofman PL, Cutfield WS. Increasing severity of traumatic brain injury in early childhood is associated with a progressive reduction in long-term serum TSH concentrations. Clinical endocrinology. 2015;84(3):465-7.

19. Heather N, Jefferies C, Hofman PL, Derraik JG, Brennan C, Kelly P, Hamill JK, Jones RG, Rowe DL, Cutfield WS. Permanent hypopituitarism is rare after structural traumatic brain injury in early childhood. The Journal of Clinical Endocrinology & Metabolism. 2012 Feb 1;97(2):599-604.

20. Heather N, Derraik JG, Beca J, Hofman PL, Dansey R, Hamill J, Cutfield WS. Glasgow Coma Scale and outcomes after structural traumatic head injury in early childhood. PloS one. 2013 Dec 2;8(12):e82245.

21. Heather N, Derraik JG, Brennan C, Jefferies C, Hofman PL, Kelly P, Jones RG, Rowe DL, Cutfield WS. Cortisol response to synacthen stimulation is attenuated following abusive head trauma. Clinical endocrinology. 2012 Sep;77(3):357-62.

22. Heather N, Hall K, Neas K, Potter H, Wiltshire E. Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland. Pediatrics. 2012 Mar 1;129(3):e817-20.

23. Heather N, Cutfield W. Traumatic brain injury: is the pituitary out of harm’s way? The Journal of pediatrics. 2011 Oct 1;159(4):686-90.


INVITED PRESENTATIONS (last 5 years)

• Liggins Institute, University of Auckland, public lecture series 2021
o Getting in early – the value of newborn screening for rare conditions
• International Society of Neonatal Screening, 2021 virtual
o Maternal iodine – too little or too much – and CH screening
• Australasian Paediatric Endocrine Group 2021, Victoria
o Panel lead - CAH NBS across the region
• Queensland Health Dinner Symposium, 2021
o Update on CAH screening across Australasia
• Perkin-Elmer education symposium 2021, Malaysia (virtual)
o CAH newborn screening and follow-up
• Australasian Paediatric Endocrine Group 2018, Newcastle
o Newborn screening for CAH – the NZ experience

ABSTRACTS (last 5 years)

• Society for the Study of Inborn Errors of Metabolism symposium, 2022 (poster)
o The risk of classical galactosaemia in newborns with borderline galactose on newborn screening
• International Society of Neonatal Screening, 2021 (oral)
o Quality improvement to improve timeliness of collection of newborn screening second samples
• Australasian Paediatric Endocrine Group 2021 (poster)
o How reliable is CH screening in preterm babies?
• Association of Public Health Laboratories 2019, Chicago (poster)
o Reliability of long-established newborn screening programme for CF – review of late diagnoses
• International Society of Neonatal Screening 2019, Guangzhou (poster)
o What is a missed case of CF?
• Australasian Paediatric Endocrine Group 2018, Newcastle (poster)
o Demographic factors impact newborn screening TSH levels
• International Society of Neonatal Screening 2018, Bratislava (oral)
o How does TSH cut-off impact the reliability of CH newborn screening


X
  • Preamrudee Poomthavorn, Thailand
Affiliation
Ramathibodi Hospital Mahidol University
Session
[Symposium 2: Puberty] Oct. 6, 2022 (Thu.) 15:45-17:15 - Speaker
Topic
Diagnosis and Outcome of Precocious Puberty
Biography
Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

EDUCATION
1995 M.D., Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

PROFESSIONAL TRAINING
1998-2001 Resident in Pediatrics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
2001-2003 Fellow in Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
2004-2006 Fellow in Paediatric Endocrinology and Diabetes, Department of Endocrinology and Diabetes, Royal Children’s Hospital, Melbourne, Australia

HOSPITAL APPOINTMENT
3 JUL 2006-27 OCT 2008 Clinical instructor, Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
28 OCT 2008-27 NOV 2011 Assistant Professor, Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
28 NOV 2011-21 MAY 2015 Associate Professor, Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
22 MAY 2015-PRESENT Professor of Pediatrics, Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

MEMBERSHIP
1995-PRESENT Thai Medical Council
2001-PRESENT The Endocrine Society of Thailand
2001-PRESENT Thai Society for Pediatric Endocrinology
2001-PRESENT The Royal College of Pediatrician, Thailand
2002 Asia Pacific Paediatric Endocrine Society
2006-2007 Asia Pacific Paediatric Endocrine Society
2008-2009, 2014 The Endocrine Society
2012 European Society of Endocrinology
2017-PRESENT Asia Pacific Paediatric Endocrine Society

ACADEMIC APPOINTMENT
1. Editor of newsletter of Thai Society for Pediatric Endocrinology (2008-2020)
2. Chair of the scientific committee of Thai Society for Pediatric Endocrinology (2016-PRESENT)
3. The scientific committee of the Royal College of Pediatricians of Thailand (2019-PRESENT)
4. Resident research contest committee (2015-PRESENT)
5. Pediatric Endocrinology expert committee of the Royal College of Pediatricians of Thailand (2019-PRESENT)
6. Chair of the research and scientific committee of the Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University (2017-2021)
7. Chair of the scientific committee of the Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University (2021-PRESENT)
8. The research committee of the Faculty of Medicine Ramathibodi Hospital, Mahidol University (2017-2021)
9. Director of the Pediatric Endocrinology and Metabolism Division, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University (2019-PRESENT)


PUBLICATIONS (AS A PRINCIPAL AUTHOR AND/OR CORRESPONDING AUTHOR)
1. Poomthavorn P, Mahachoklertwattana P, Tapaneya-Olarn W, Chuansumrit A, Chunharas A. Antineutrophilic cytoplasmic antibody-positive systemic vasculitis associated with propylthiouracil therapy: report of 2 children with Graves' disease. J Med Assoc Thai 2002;85 Suppl 4:S1295-301.
2. Poomthavorn P, Mahachoklertwattana P, Preeyasombat C. Childhood-onset growth hormone (GH) deficiency: clinical course and outcome of GH therapy. Rama Med J 2004;27:13-20.
3. Poomthavorn P, Mahachoklertwattana P, Ongphiphadhanakul B, Preeyasombat C, Rajatanavin R. Exogenous subclinical hyperthyroidism during adolescence: effect on peak bone mass. J Pediatr Endocrinol Metab 2005;18:463-9.
4. Poomthavorn P, Mahachoklertwattana P. Moderately elevated neonatal thyrotropin: transient hyperthyrotropinemia or subclinical hypothyroidism. J Trop Pediatr 2005;51:126-7.
5. Poomthavorn P, Zacharin M. Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism. J Paediatr Child Health 2006;42:821-3.
6. Poomthavorn P, Zacharin M. Traumatic brain injury-mediated hypopituitarism. Report of four cases. Eur J Pediatr 2007;166:1163-8.
7. Poomthavorn P, Mahachoklertwattana P, Wanitkun S, Limsuwan A. Cardiomyopathy and pseudopuberty in a girl with severe hypothyroidism due to autoimmune thyroiditis. Endocrinologist 2007;17:17-9.
8. Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P. Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism. Eur J Pediatr 2008;167:431-4.
9. Poomthavorn P, Maixner W, Zacharin M. Pituitary function in paediatric survivors of severe traumatic brain injury. Arch Dis Child 2008;93:133-7.
10. Poomthavorn P, Stargatt R, Zacharin M. Psychosexual and psychosocial functions of anorchid young adults. J Clin Endocrinol Metab 2009;94:2502-5.
11. Poomthavorn P, Khlairit P, Mahachoklertwattana P. Subcutaneous gonadotropin-releasing hormone agonist (triptorelin) test for diagnosing precocious puberty. Horm Res 2009;72:114-9.
12. Poomthavorn P, Lertbunrian R, Preutthipan A, Sriphrapradang A, Khlairit P, Mahachoklertwattana P. Serum free cortisol index, free cortisol and total cortisol in critically ill children. Intensive Care Med 2009;35:1281-5.
13. Poomthavorn P, Mahachoklertwattana P, Khlairit P. Childhood virilization and adrenal suppression after ingestion of methandienone and cyproheptadine. J Pediatr Endocrinol Metab 2009;22:459-62.
14. Poomthavorn P, Wong SH, Higgins S, Werther GA, Russo VC. Activation of a prometastatic gene expression program in hypoxic neuroblastoma cells. Endocr Relat Cancer 2009;16:991-1004.
15. Poomthavorn P, Isaradisaikul B, Chuansumrit A, Khlairit P, Sriphrapradang A, Mahachoklertwattana P. High prevalence of “biochemical” adrenal insufficiency in thalassemics: is it a matter of different testings or decreased cortisol binding globulin? J Clin Endocrinol Metab 2010;95:4609-15.
16. Engkakul P, Mahachoklertwattana P, Poomthavorn P. Eponym: de Quervain thyroiditis. Eur J Pediatr 2011;170:427-31.
17. Engkakul P, Mahachoklertwattana P, Poomthavorn P. de Quervain thyroiditis in a young boy following hand-foot-mouth disease. Eur J Pediatr 2011;170:527-9.
18. Poomthavorn P, Suphasit R, Mahachoklertwattana P. Adult height, body mass index and time of menarche of girls with idiopathic central precocious puberty after gonadotropin-releasing hormone analogue treatment. Gynecol Endocrinol 2011;27:524-8.
19. Wongphyat O, Mahachoklertwattana P, Molagool S, Poomthavorn P. Acute suppurative thyroiditis in young children. J Paediatr Child Health 2012;48:E116-8.
20. Kulpiya A, Mahachoklertwattana P, Pakakasama S, Hongeng S, Poomthavorn P. Hypercalcemia and altered biochemical bone markers in post-bone marrow transplantation osteopetrosis: a case report and literature review. Pediatr Transplant 2012;16:E140-5.
21. Poomthavorn P, Saowan S, Mahachoklertwattana P, Chailurkit L, Khlairit P. Vitamin D status and glucose homeostasis in obese children and adolescents living in the tropics. Int J Obes (Lond) 2012;36:491-5.
22. Poomthavorn P, Chaya W, Mahachoklertwattana P, Sukprasert M, Weerakiet S. Glucose metabolism in obese and lean adolescents with polycystic ovary syndrome. J Pediatr Endocrinol Metab 2013;26:319-24.
23. Poomthavorn P, Chawalitdamrong P, Hongeng S, Mahachoklertwattana P, Pakakasama S, Khlairit P, Chailurkit LO. Gonadal function of beta-thalassemics following stem cell transplantation conditioned with myeloablative and reduced intensity regimens. J Pediatr Endocrinol Metab 2013;26:925-32.
24. Poomthavorn P, Nantarakchaikul P, Mahachoklertwattana P, Chailurkit LO, Khlairit P. Effects of correction of vitamin D insufficiency on serum osteocalcin and glucose metabolism in obese children. Clin Endocrinol (Oxf) 2014;80:516-23.
25. Sukkhojaiwaratkul D, Mahachoklertwattana P, Poomthavorn P. Epidermal nevus syndrome with hypophosphatemic rickets in a young girl. J Paediatr Child Health 2014;50:566-9.
26. Korwutthikulrangsri M, Mahachoklertwattana P, Lertbunrian R, Chailurkit LO, Poomthavorn P. Vitamin D deficiency and adrenal function in critically ill children. J Med Assoc Thai 2015;98:365-72.
27. Korwutthikulrangsri M, Mahachoklertwattana P, Chanprasertyothin S, Pongratanakul S, Poomthavorn P. Serum fibroblast growth factor 21 in overweight and obese Thai children and adolescents: its relation to glucose metabolism and its change after glucose loading. Clin Endocrinol (Oxf) 2015;83:820-7.
28. Korwutthikulrangsri M, Wattanatranon D, Teeraratkul S, Wijarn P, Mahachoklertwattana P, Poomthavorn P. Testicular enlargement in a pre-pubertal boy with adrenocortical tumour. Paediatr Int Child Health 2018;38:66-8.
29. Leelalertlauw C, Korwutthikulrangsri M, Mahachoklertwattana P, Chanprasertyothin S, Khlairit P, Pongratanakul S, Poomthavorn P. Serum glypican 4 level in obese children and its relation to degree of obesity. Clin Endocrinol (Oxf) 2017;87:689-95.
30. Leelalertlauw C, Mahachoklertwattana P, Hongeng S, Poomthavorn P. Megestrol acetate-caused adrenal insufficiency and delayed puberty in a male adolescent with spinal tumour. J Paediatr Child Health 2018;54:194-6.
31. Santiwatana S, Mahachoklertwattana P, Limwongse C, Khlairit P, Pongratanakul S, Roothumnong E, Prangphan K, Choubtum L, Songdej D, Poomthavorn P. Skewed X chromosome inactivation in girls and female adolescents with autoimmune thyroid disease. Clin Endocrinol (Oxf) 2018;89:863-9.
32. Wankanit S, Mahachoklertwattana P, Anantasit N, Katanyuwong P, Poomthavorn P. Myxoedema coma in a 2-year-old girl with untreated congenital hypothyroidism: Case report and literature review. J Paediatr Child Health 2019;55:707-10.
33. Wankanit S, Mahachoklertwattana P, Pattanaprateep O, Poomthavorn P. Basal serum luteinising hormone cut-off, and its utility and cost-effectiveness for aiding the diagnosis of the onset of puberty in girls with early stages of breast development. Clin Endocrinol (Oxf) 2020;92:46-54.
34. Sorapipatcharoen K, Mahachoklertwattana P, Tim-Aroon T, Wattanasirichaigoon D, Karanes S, Molagool S, Poomthavorn P. Successful parathyroidectomy with intra-operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR gene. J Paediatr Child Health 2020;56:1144-6.
35. Sakornyutthadej N, Mahachoklertwattana P, Anantasit N, Hongeng S, Poomthavorn P. Acetazolamide aggravated diabetic ketoacidosis severity in a boy post-transplantation thalassaemia with intracranial hypertension. J Paediatr Child Health 2021;57:445-7.
36. Sithinamsuwan K, Mahachoklertwattana P, Wankanit S, Chanprasertyothin S, Pongratanakul S, Khlairit P, Poomthavorn P. Serum kisspeptin and its relation to metabolic parameters and glucose metabolism in prepubertal and pubertal obese children. Int J Endocrinol 2020;2020:8826401.
37. Sorapipatcharoen K, Tim-Aroon T, Mahachoklertwattana P, Chantratita W, Iemwimangsa N, Sensorn I, Panthan B, Jiaranai P, Noojarern S, Khlairit P, Pongratanakul S, Suprasongsin C, Korwutthikulrangsri M, Sriphrapradang C, Poomthavorn P. DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients. Endocr Connect 2020;9:1121-34.
38. Wankanit S, Mahachoklertwattana P, Tim-Aroon T, Sorapipatcharoen K, Poomthavorn P. Central precocious puberty in a boy with pseudohypoparathyroidism type 1A due to a novel GNAS variant, who had congenital hypothyroidism as the first manifestation. J Clin Res Pediatr Endocrinol 2021 Jul 30. doi: 10.4274/jcrpe.galenos.2021.2021.0141.
39. Sakornyutthadej N, Mahachoklertwattana P, Chanprasertyothin S, Pongratanakul S, Khlairit P, Poomthavorn P. Beta cell function, incretin hormones, and incretin effect in obese children and adolescents with prediabetes. Pediatr Diabetes 2022;23:203-11.

PUBLICATIONS (AS A CO-AUTHOR)
1. Preutthipan A, Poomthavorn P, Sumanapisan A, Chinrat B, Thasuntia S, Plitponkarnpim A, Chantarojanasiri T. A prospective, randomized double-blind study in children comparing two doses of nebulized L-epinephrine in postintubation croup. J Med Assoc Thai 2005;88:508-12.
2. Greaves R, Poomthavorn P, Zacharin M. 11ß-Hydroxylase deficiency masked by alternative medicines. J Paediatr Child Health 2006;42:652-4.
3. Mahachoklertwattana P, Wanasuwankul S, Poomthavorn P, Choubtum L, Sriphrapradang A. Short-term cyproheptadine therapy in underweight children: effects on growth and serum insulin-like growth factor-I. J Pediatr Endocrinol Metab 2009;22:425-32.
4. Mahachoklertwattana P, Suthutvoravut U, Poomthavorn P, Charoenkiatkul S, Udomsubpayakul U, Rajatanavin R. Sexual maturation in Thai boys. J Pediatr Endocrinol Metab 2010;23:65-71.
5. Mahachoklertwattana P, Yimsumruay T, Poomthavorn P, Chuansumrit A, Khlairit P. Acute effects of blood transfusion on growth hormone and insulin-like growth factor-1 levels in children with thalassemia. Horm Res Paediatr 2011;75:240-5.
6. Engkakul P, Mahachoklertwattana P, Jaovisidha S, Chuansumrit A, Poomthavorn P, Chitrapazt N, Chuncharunee S. Unrecognized vertebral fractures in adolescents and young adults with thalassemia syndromes. J Pediatr Hematol Oncol 2013;35:212-7.
7. Sukkhojaiwaratkul D, Mahachoklertwattana P, Poomthavorn P, Panburana P, Chailurkit LO, Khlairit P, Pongratanakul S. Effects of maternal iodine supplementation during pregnancy and lactation on iodine status and neonatal thyroid-stimulating hormone. J Perinatol 2014;34:594-8.
8. Chuansumrit A, Pengpis P, Mahachoklertwattana P, Sirachainan N, Poomthavorn P, Sungkarat W, Kadegasem P, Khlairit P, Wongwerawattanakoon P. Effect of iron chelation therapy on glucose metabolism in non-transfusion-dependent thalassaemia. Acta Haematol 2017;137:20-6.
9. Wankanit S, Chuansumrit A, Poomthavorn P, Khlairit P, Pongratanakul S, Mahachoklertwattana P. Acute effects of blood transfusion on insulin sensitivity and beta-cell function in children with beta-thalassemia/HbE disease. J Clin Res Pediatr Endocrinol 2018;10:1-7.
10. Tangngam H, Mahachoklertwattana P, Poomthavorn P, Chuansumrit A, Sirachainan N, Chailurkit L, Khlairit P. Under-recognized hypoparathyroidism in thalassemia. J Clin Res Pediatr Endocrinol 2018;10:324-30.
11. Sakornyutthadej N, Poomthavorn P, Mahachoklertwattana P. Effect of environmental temperature on serum sodium level in hospitalized non-critically ill children. J Trop Pediatr 2019;65:336-41.
12. Phetthong T, Tim-Aroon T, Khongkrapan A, Poomthavorn P, Wattanasirichaigoon D. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand. Am J Med Genet A 2020;182(8):1873-6.
13. Homhuan W, Poomthavorn P, Paksi W, Khlairit P, Nongnuch A, Pirojsakul K. Masked hypertension and its associations with glycemic variability metrics in children and adolescents with type 1 diabetes. Pediatr Nephrol 2021;36(2):379-86.
14. Wijarn P, Poomthavorn P, Khlairit P, Pongratanakul S, Chailurkit L, Mahachoklertwattana P. Short-term effects of gonadotropin-releasing hormone analogue treatment on leptin, ghrelin and peptide YY in girls with central precocious puberty. J Pediatr Endocrinol Metab 2021;34(4):479-84.
15. Pipitprapat W, Pattanaprateep O, Iemwimangsa N, Sensorn I, Panthan B, Jiaranai P, Chantratita W, Sorapipatcharoen K, Poomthavorn P, Mahachoklertwattana P, Sura T, Tunteeratum A, Srichan K, Sriphrapradang C. Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma. Ann Med 2021;53(1):1243-55.
16. Korpaisarn S, Chiewchalermsri D, Arunakul J, Chinthakanan O, Poomthavorn P, Sriphrapradang C. Effects of testosterone treatment on transgender males: A single-institution study. SAGE Open Med 2021 Oct 10;9:20503121211051546.
17. Ponin L, Poomthavorn P, Pirojsakul K, Lerkvaleekul B, Soponkanaporn S, Chitrapazt N, Vilaiyuk S. Long-term growth and final adult height outcome in childhood-onset systemic lupus erythematosus. Pediatr Rheumatol Online J 2022;20:4.

PRESENTATIONS (INTERNATIONAL MEETINGS)
1. Asia Pacific Paediatric Endocrine Society Meeting 2002 (Cairns, Australia): Poomthavorn P, Mahachoklertwattana P, Ongphiphadhanakul B, Preeyasombat C, Rajatanavin R. “Exogenous subclinical hyperthyroidism during childhood and adolescence: effect on peak bone mass”
2. The 44th Australasian Society of Medical Research (ASMR) Meeting 2005 (Brisbane, Australia): Poster presentation: Poomthavorn P, Metaxas S, Werther G, Russo V. “Hypoxia inducible factor-1alpha (HIF-1alpha) and insulin-like growth factor-I are key regulators of hypoxia responses in neuroblastoma cells”
3. The 88th Endocrine Society “Endo 2006” Annual Meeting (Boston, USA): Poster presentation: Poomthavorn P, Metaxas S, Werther G, Russo V. “Hypoxia inducible factor-1alpha (HIF-1alpha) and insulin-like growth factor-I are key regulators of hypoxia responses in neuroblastoma cells”
4. The 4th Asia Pacific Paediatric Endocrine Society Meeting 2006 (Pattaya, Thailand): Poster presentation: Poomthavorn P, Zacharin M. “Early manifestation of obesity and calcinosis cutis in pseudohypoparathyroidism”
5. The 4th Asia Pacific Paediatric Endocrine Society Meeting 2006 (Pattaya, Thailand): Poster presentation: Greaves R, Poomthavorn P, Zacharin M. “11Beta-hydroxylase deficiency masked by alternative medicines”
6. The 2nd Congress of Asian Society of Pediatric Research Meeting 2006 (Yokohama, Japan): Oral presentation: Poomthavorn P, Greaves R, Hoan NT, Warne G, Pitt J. “Paper blotter urine steroid profiles by tandem mass spectrometry: a new method for the investigation of 21-hydroxylase deficiency”
7. The 90th Endocrine Society “Endo 2008” Annual Meeting (San Francisco): Poster presentation: Poomthavorn P, Khlairit P, Mahachoklertwattana P. “Subcutaneous gonadotropin-releasing hormone test for diagnosing central precocious puberty”
8. The 8th Joint Meeting of the Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology 2009 (New York): Poster presentation: Poomthavorn P, Isaradisaikul B, Chuansumrit A, Khlairit P, Sriphrapradang A, Mahachoklertwattana P. “Adrenal function and cortisol binding globulin in children with thalassemia”

AWARDS
1. Poster presentation award: Asia Pacific Paediatric Endocrine Society Meeting 2002 (Cairns, Australia): Poomthavorn P, Mahachoklertwattana P, Ongphiphadhanakul B, Preeyasombat C, Rajatanavin R. “Exogenous subclinical hyperthyroidism during childhood and adolescence: effect on peak bone mass”
2. Travel award: The 2nd Congress of Asian Society of Pediatric Research Meeting 2006 (Yokohama, Japan): Oral presentation: Poomthavorn P, Greaves R, Hoan NT, Warne G, Pitt J. “Paper blotter urine steroid profiles by tandem mass spectrometry: a new method for the investigation of 21-hydroxylase deficiency”
3. GlaxoSmithKline Endocrine Research Award 2009 (Thai Endocrine Society): “Serum free cortisol index, free cortisol and total cortisol in critically ill children”
4. Nestle Nutrition Institute Young Researcher Award 2012: “Vitamin D status and glucose homeostasis in obese children and adolescents living in the tropics”


X
  • Rajesh Khadgawat, India
Affiliation
All India institute of Medical Sciences, New Delhi
Session
[Symposium 4: Bone and Calcium] Oct. 7, 2022 (Fri.) 10:15-11:45 - speaker
Topic
Vitamin D Supplementation Studies for Non-Skeletal Benefits: Experience from India
Biography
Present Affiliation: Professor, Dept. of Endocrinology & Metabolism, All India Institute of Medical Sciences

Educational Qualifications:
Undergraduate
MBBS 66.7% VI Rank II MBBS 1989 Sardar Patel Medical College, Sardar Patel Medical College

Post Graduate Training:
Doctorate of Medicine (D.M.) Endocrinology 1998 Sanjay Gandhi Post Graduate Institute of Medical Sciences
Diplomat of National Board (D.N.B.) Endocrinology 1998 National Board of Examinations, New Delhi
Member of National Academy Medical Sciences (MNAMS) 2000 National Academy of Medical Sciences New Delhi
Doctor of Medicine (M.D.) Pediatrics, 1994 Jawahera lNehru Medical College, Ajmer, Rajasthan

Professional Experience
Professor, Endocrinology & Metabolism, All India Institute of Medical Sciences, (AIIMS), New Delhi, July 2015 to till date
Additional Professor, Endocrinology & Metabolism, All India Institute of Medical Sciences, (AIIMS), New Delhi, July 2011 to June, 2015
Associate Professor, Endocrinology & Metabolism, All India Institute of Medical Sciences, (AIIMS), New Delhi, July 2008 to June 2011
Assistant Professor, Endocrinology & Metabolism, All India Institute of Medical Sciences, (AIIMS), New Delhi, July 2003 to July 2008
Assistant Professor, Endocrinology & Metabolism, Nizam’s Institute of Medical Sciences, Hyderabad, March 1999 to Jan. 2001
Senior Resident, Endocrinology & Metabolism, SGPGIMS, Lucknow, Jan. 1996 to Dec. 1998
Senior Resident, Pediatrics, Maulana Azad Medical College, New Delhi, Sept. 1995 to Dec. 1995
Senior Resident, Pediatrics, Mool Chand Hospital, New Delhi, Dec. 1994 to Aug. 1995

Additional Formal Education
Completed 01 and 02 basic courses in: -

(1) Biostatistics
(2) Scientific Communication
(3) Computer Education
(4) Medical Illustration and Photography
(5) Medical Instrumentation

Board Certification
Diplomat of National Board (D.N.B.) Endocrinology 1998 National Board of Examinations, New Delhi

Academic Distinctions and Awards
• Gold medal for highest marks in: - Pathology
General Surgery
Obstetrics &Gynecology
• Merit holder in Rajasthan University in II MBBS
• Selected by International Osteoporosis Foundation (IOF) for "Advanced Training Course on Osteoporosis, Jan 24-27, 2000, Lyon, France
• “The Young Investigator Travel Award’ by Indian Society of Bone & Mineral Research (ISBMR) to present paper in “International Bone & Mineral Society (IBMS) - International Osteoporosis Federation (IOF) joint meeting, June 2005, Geneva, Switzerland”.

Best Paper Awards
• ECTS East- Meets- West Award 2019 in Recognition of outstanding work which has been accepted for presentation at the 46th ANNUAL CONGRESS OF THE ECTS 11-14 MAY 2019, BUDAPEST, HUNGARY.

• Dev Raj Bajaj Research Prize for the best paper submitted in the field of the development of newer Techniques / Instrumentation in Physiology / Pharmacology / Allied Sciences (Association of Physiologists and Pharmacologists of India Conference APPICON 2013).

Memberships of Professional Bodies
Indian Society of Bone & Mineral Research (ISBMR), Life member & Joint Secretary
Pediatric Endocrinology Chapter, Indian Academy of Pediatrics, Life member
Research Society for Study of Diabetes in India (RSSDI), Life Member
Indian Rheumatism Association (IRA), Life Member

PUBLICATIONS

1. Alpesh Goyal, Viveka P. Jyotsna, Arun K.C. Singh, Yashdeep Gupta, Rajesh Khadgawat. Etiology and Clinical Profile of Patients with Tall Stature: A Single-Center Experience. Indian J Endocrinol Metab. 2020 Sep-Oct; 24(5): 428–433.

2. Hiya Boro, Shailendra Singh Naik, Charandeep Singh, Saurav Khatiwada, Rajesh Khadgawat. X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy Cureus. 2020 Oct; 12(10): e10874.

3. Hiya Boro, Uttio Gupta, Charandeep Singh, Rakhi Malhotra, Rajesh Khadgawat. Insulin Autoimmune Syndrome – A Case Series Eur Endocrinol. 2020 Oct; 16(2): 168–171.

4. Suraj Kubihal, Alpesh Goyal, Rajiv Singla, Rajesh Khadgawat. Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report Indian Pediatr. 2020; 57(5): 468–469.

5. Nishant Raizada, Alpesh Goyal, Rajiv Singla, Vishnubhatla Sreenivas, Nandita Gupta, Rajesh Khadgawat. Changing Trend in Vitamin D Status from 2008 to 2016: An Experience from a Tertiary Care Institute in North India Indian J Endocrinol Metab. 2020 Mar-Apr; 24(2): 150–154.

6. Alpesh Goyal, Nishikant Damle, Devasenathipathy Kandasamy, Rajesh Khadgawat. Epidermal Nevus Syndrome with Hypophosphatemic Rickets Indian J Endocrinol Metab. 2020 Mar-Apr; 24(2): 227–229.

7. Alpesh Goyal, Suraj Kubihal, Yashdeep Gupta, Viveka P. Jyotsna, Rajesh Khadgawat. Dynamic Testing for Evaluation of Adrenal and Gonadal Function in Pediatric and Adult Endocrinology: An Overview Indian J Endocrinol Metab. 2019 Nov-Dec; 23(6): 593–601.

8. Alpesh Goyal, Rajesh Khadgawat. An egg in the neck: A rare case of massively calcified thyroid nodule Indian J Med Res. 2019 Oct; 150(4): 419.

9. Shweta Varshney, Rajesh Khadgawat, Monita Gahlot, Deepak Khandelwal, Avneet Kaur Oberoi, R. K. Yadav, V Sreenivas, Nandita Gupta, Nikhil Tandon. Effect of High-dose Vitamin D Supplementation on Beta Cell Function in Obese Asian-Indian Children and Adolescents: A Randomized, Double Blind, Active Controlled Study Indian J Endocrinol Metab. 2019 Sep-Oct; 23(5): 545–551.

10. Alpesh Goyal, Hiya Boro, Rajesh Khadgawat. Male Gender Identity and Reversible Hypokalemic Hypertension in a 46,XX Child with 11-Beta-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Cureus. 2019 Jul; 11(7): e5248.

11. Monita Gahlot, Alpesh Goyal, Arun K. C. Singh, Viveka P. Jyotsna, Nandita Gupta, Rajesh Khadgawat. Long-term Response to Recombinant Human Growth Hormone Therapy in Indian Children with Growth Hormone Deficiency Indian J Endocrinol Metab. 2019 Jul-Aug; 23(4): 446–451.

12. Kavita Singh, Mohammed K. Ali, Raji Devarajan, Roopa Shivashankar, Dimple Kondal, Vamadevan S. Ajay, V. Usha Menon, Premlata K. Varthakavi, Vijay Viswanathan, Mala Dharmalingam, Ganapati Bantwal, Rakesh Kumar Sahay, Muhammad Qamar Masood, Rajesh Khadgawat, Ankush Desai, Dorairaj Prabhakaran, K. M. Venkat Narayan, Victoria L. Phillips, Nikhil Tandon, On behalf of the CARRS Trial Group. Rationale and protocol for estimating the economic value of a multicomponent quality improvement strategy for diabetes care in South Asia Glob Health Res Policy. 2019; 4: 7.

13. Alpesh Goyal, Rakhi Malhotra, Rajesh Khadgawat. Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery BMJ Case Rep. 2019; 12(3): e229476.

14. Ramot R, Kachhawa G, Kulshreshtha V, Varshney S, Sankar MJ, Devasenathipathy K, Sreenivas V, Khadgawat R. Bone Mass in Newborns Assessed by DXA - A Systematic Review and Meta-analysis. Indian J Endocrinol Metab. 2019 Mar-Apr;23(2):198-205.

15. Gupta V, Saxena R, Walia GK, Agarwal T, Vats H, Dunn W, Relton C, Sovio U, Papageorghiou A, Davey Smith G, Khadgawat R, Sachdeva MP. Gestational route to healthy birth (GaRBH): protocol for an Indian prospective cohort study. BMJ Open. 2019 May; 9(4):e025395.

16. Goyal A, Khadgawat R. Monitoring Bone Health in Children with Hemophilic Arthropathy: Where Do We Stand? Indian J Pediatr. 2019 Jun;86(6):487-488. doi: 10.1007/s12098-019-02939-y.

17. Singh K, Ali MK, Devarajan R, Shivashankar R, Kondal D, Ajay VS, Menon VU, Varthakavi PK, Viswanathan V, Dharmalingam M, Bantwal G, Sahay RK, Masood MQ, Khadgawat R, Desai A, Prabhakaran D, Narayan KMV, Phillips VL, Tandon N; CARRS Trial Group. Rationale and protocol for estimating the economic value of a multicomponent quality improvement strategy for diabetes care in South Asia. Glob Health Res Policy. 2019 Mar 18;4:7.

18. Goyal A, Malhotra R, Khadgawat R. Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery.BMJ Case Rep. 2019 Mar 12;12(3).

19. Bharati J, Bhatia D, Khandelwal P, Gupta N, Sinha A, Khadgawat R, Hari P, Bagga A. C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets.Indian J Pediatr. 2019 Jun;86(6):555-557.

20. Goyal A, Khadgawat R. Height Velocity Percentile Curves in Indian Children: Time to Move Beyond Standard Growth Charts. Indian Pediatr. 2019 Jan 15;56(1):19-20.

21. Yadav R, Yadav RK, Khadgawat R, Pandey RM, Upadhyay AD, Mehta N. Randomized Controlled Trial of A 12-Week Yoga-Based (Including Diet) Lifestyle vs. Dietary Intervention on Cardio-Metabolic Risk Factors and Continuous Risk Score in Indian Adults with Metabolic Syndrome. Behav Med. 2019 Jan 7:1-12.

22. Agrawal A, Mahey R, Kachhawa G, Khadgawat R, Vanamail P, Kriplani A.Comparison of metformin plus myoinositol vs metformin alone in PCOS womenundergoing ovulation induction cycles: randomized controlled trial. GynecolEndocrinol. 2019 Jan 7:1-4.


Chapters in Academic Books:

1. Cardiology society of India cardiology update. Ramu Adela, Rajesh Khadgawat. Vitamin D and cardiovascular disease: Indian perspective. New Delhi. Jaypee brothers medical publishers- the health sciences publisher, 2019.

2. Emergencies in diabetes and endocrine diseases. Rajesh Khadgawat, Alpesh goyal. Acute adrenal crisis. New delhi, India. Evangel publishers, 2019.

3. IAP textbook on pediatric endocrinology.Aashima Dabas, Rajesh Khadgawat. Lipid disorders in children. New Delhi, India. Jaypee brothers medical publishers- the health sciences publisher, 2019.

4. Aashima Dabas, Rajesh Khadgawat. Managing Diabetes in Neonates and Toddlers. CDIC textbook of pediatric diabetes. New Delhi, India. Jaypee brothers medical publishers- the health sciences publisher, 2018

5. Rajesh Khadgawat, Rekha Ramot. Intrauterine programming in diabetic pregnancy- future implications. Clinical guidelines for management of diabetes in pregnancy. New Delhi, India. Jaypee brothers medical publishers- the health sciences publisher, 2018

6. Rajesh Khadgawat, Nikhil Tandon, Vishwanath S, Sudipto Saha, Sunil Chumber. Clinical surgery a text and atlas. New Delhi. Jaypee brothers medical publishers- the health sciences publisher, 2016.

7. Kachhawa G, Khadgawat R. Female hormonal contraception. In ESI Manual of Clinical Endocrinology, 2nd Edition, S Bajaj (ED), Jaypee The health sciences publisher, New Delhi 2015 pp 737-742

8. Jevalikar G, Khadgawat R. Metabolic bone diseases in children. In ESI Manual of Clinical Endocrinology, 2nd Edition, S Bajaj (ED), Jaypee The health sciences publisher, New Delhi 2015 pp 658-666

9. Dabas A, Khadgawat R. Pheochromocytoma in children and adolescents. In: Case based reviews in Pediatric Endocrinology. Eds V Jain, Ram K Menon, Jaypee The health sciences publisher, New Delhi 2015 pp 76-84.

10. A Dabas, R Khadgawat. Overweight and Obesity (non-endocrine). In Postgraduate Textbook of Pediatrics Eds Piyush Gupta, PSN Menon, Siddarth Ramji, Rakesh Lodha, New Delhi 2015.

11. R Khadgawat. Precise dosing of thyroxine in hypothyroidism. Annual conference of Association of Physicians of India (APICON-2009)

12. A Shah, R Khadgawat, A Mithal. Osteoporosis revolution. Annual conference of Association of Physicians of India (APICON-1999)

13. A Mithal, R Khadgawat. Clinical relevance of calcium sensing receptor. In Endocrinology, Metabolism and Diabetes. KM Prasanna Kumar, SS Thakur (eds.) 1996 pp-91-100


X
  • Shigeru Suzuki, Japan
Affiliation
Asahikawa Medical University
Session
[Symposium 8: Neonatal Endocrinology] Oct. 8, 2022 (Sat.) 14:15-15:45 - Speaker
Topic
Hypoglycemia Congenital Hyperinsulinism
Biography
Education:
2008 Ph.D. (Dr. of Medical Science), Asahikawa Medical
University (Supervisor Prof. Kenji Fujieda)
2002 M. D., Asahikawa Medical University

Professional Training and Employment:
2021-present Lecturer, Department of Pediatrics, Asahikawa Medical University, Japan
2016-2021 Assistant Professor, Department of Pediatrics, Asahikawa Medical University, Japan
2015-2016 Chief physician in Pediatrics, Asahikawa Medical University Hospital, Japan
2013-2015 Collaborator (Special Volunteer), Program in Reproductive Adult Endocrinology, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, USA
2010-2015 Assistant Professor, Department of Pediatrics, Asahikawa Medical University, Japan
2009-2010 Medical Staff in Pediatrics, Asahikawa Medical University Hospital, Japan
2008-2009 Medical Staff in Pediatrics, Asahikawa-Kosei General Hospital, Japan
2004-2008 Medical Staff in Pediatrics, Asahikawa Medical University Hospital, Japan
2003-2004 Resident in Pediatrics, Asahikawa-Kosei General Hospital, Japan
2002-2003 Resident in Pediatrics, Asahikawa Medical University Hospital, Japan
2002 Passed the Examination of National Board of Physician, Japan

Honors:
2005 Excellent presentation Award of the 39th Annual Meeting of the Japan Society for Pediatric Endocrinology
2005 Young Investigators’ Award of 1st Congress of Asian Society for
Pediatric Research

Licenses/Certifications:
2011 Board Certified Endocrinologist by the Japan Endocrine Society (#2110019)
2010 Board Certified Diabetologist by the Japan Diabetes Society (#4781)
2008 Board Certified Pediatrician by the Japan Pediatric Society (#30985)
2002 Japan Medical License (#42433)

Mempership: The Japan Pediatric Society
The Japanese Society for Pediatric Endocrinology
The Japan Society for Pediatric and Adolescent Diabetes
The Japan Endocrine Society
The Japan Diabetes Society
The Japan Society of Human Genetics
ASIA PACIFIC PAEDIATRIC ENDOCRINE SOCIETY
Asian Association for the Study of Diabetes

Publications
1. Kokumai T, Suzuki S, Nishikawa N, Yamamura H, Mukai T, Tanahashi Y, Takahashi S. Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report. J Clin Res Pediatr Endocrinol 2022 Aug 19. doi: 10.4274/jcrpe.galenos.2022.2022-4-11.
2. Fukuda Y, Ishii A, Kamasaki H, Fusagawa S, Terada K, Igarashi L, Kobayashi M, Suzuki S, Tsugawa T. Long-term sensor-augmented pump therapy for neonatal diabetes mellitus: a case series. Clin Pediatr Endocrinol. 2022;31(3):178-184.
3. Suzuki S, Matsuo K, Ito Y, Kobayashi A, Kokumai T, Furuya A, Ueda O, Mukai T, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H. A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression. Eur J Endocrinol. 2021;185(1):1-12
4. Nagasaki K, Nakamura A, Yamauchi T, Kamasaki H, Hara Y, Kanno J, Koyama S, Ohtsu Y, Takahashi I, Suzuki S, Kashimada K, Tajima T. Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis. Clin Pediatr Endocrinol. 2021;30(2):79-84.
5. Suzuki S, Kokumai T, Tanahashi Y, Azuma H. Protein ingestion can significantly affect glucagon secretion along with blood urea nitrogen alteration in type 1 diabetes. J Diabetes Investig. 2021;12:293-294.
6. Suzuki S, Taketazu G, Mukai T, Sakata H, Oki J. Bacteremia-Induced Cholestatic Jaundice as a Major Manifestation of Pneumococcal Infection in a Healthy Toddler. J Pediatr Infect Dis. 2021;16:085-088.
7. Yamamura H, Kokumai T, Furuya A, Suzuki S, Tanahashi Y, Azuma H. Increase in doses of levothyroxine at the age of 3 years and above is useful for distinguishing transient and permanent congenital hypothyroidism. Clin Pediatr Endocrinol. 2020;29:143-149.
8. Suzuki Y, Sawada H, Tokumasu T, Suzuki S, Ninomiya S, Shirai M, Mukai T, Saito CT, Nishimura G, Tominaga M. Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism. J Physiol Sci. 2020;70:33.
9. Suzuki S, Mukai T, Kokumai T, Furuya A, Tanahashi Y, Azuma H. Sufficient Increment of Sulfonylurea Without Reintroduction of Insulin Ameliorates Pubertal Deterioration of Glycaemic Control in KCNJ11 Neonatal Diabetes Treated With Long-Term Sulfonylurea. Diabetologia. 2020;63:1659-1661.
10. Suzuki S, Kokumai T, Furuya A, Nagamori T, Matsuo K, Ueda O, Mukai T, Ito Y, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H. A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation. Eur J Med Genet. 2020;63:104039.
11. Suzuki S, Iben JR, Coon SL, Kino T. SIRT1 is a transcriptional enhancer of the glucocorticoid receptor acting independently to its deacetylase activity. Mol Cell Endocrinol. 2018;461:178-187.
12. Matsuo K, Kobayashi A, Tanahashi Y, Maruyama S, Niitsu Y, Katsuta H, Furuya A, Suzuki S, Kawamura M, Azuma H. Novel splice site mutation in GATA3 in a patient with HDR syndrome. Clin Pediatr Endocrinol. 2017;26:271-273.
13. Suzuki S, Furuya A, Tanahashi Y, Azuma H, Bando Y, Kasayama S, Koga M. Glycemic control indicator levels at diagnosis of neonatal diabetes mellitus: Comparison with other types of insulin-dependent diabetes mellitus. Pediatr Diabetes. 2017;18:767-771.
14. Fadda A, Syed N, Mackeh R, Papadopoulou A, Suzuki S, Jithesh PV, Kino T. Genome-wide Regulatory Roles of the C2H2-type Zinc Finger Protein ZNF764 on the Glucocorticoid Receptor. Sci Rep. 2017;7:41598.
15. Habib T, Sadoun A, Nader N, Suzuki S, Liu W, Jithesh PV, Kino T. AKT1 has dual actions on the glucocorticoid receptor by cooperating with 14-3-3. Mol Cell Endocrinol. 2017; 439:431-443.
16. Matsuo K, Tanahashi Y, Mukai T, Suzuki S, Tajima T, Azuma H, Fujieda K. High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. J Pediatr Endocrinol Metab. 2016; 29:807-12.
17. Furuya A, Suzuki S, Oshima M, Amamiya S, Nakao A, Araki M, Mizutani K, Hayano S, Ushijima K, Imamoto A, Nagano N, Urakami T, Matsuo K, Tanahashi Y, Azuma H, Koga M. Age-Adjusted Glycated Albumin at Diagnosis is more Correlated with the Product of Age and Plasma Glucose than Plasma Glucose Alone in Patients with Neonatal Diabetes Mellitus. J. Clin. Lab. Anal. 2016;30:1086-1091.
18. Hurt DE, Suzuki S, Mayama T, Charmandari E, Kino T. Structural Analysis on the Pathologic Mutant Glucocorticoid Receptor Ligand-Binding Domains. Mol Endocrinol. 2016;30:173-88.
19. Hill MJ, Suzuki S, Segars JH, Kino T. CRTC2 Is a Coactivator of GR and Couples GR and CREB in the Regulation of Hepatic Gluconeogenesis. Mol Endocrinol. 2016;30:104-17.
20. Suzuki S, Furuya A, Oshima M, Amamiya S, Nakao A, Wada K, Okuhara K, Hayano S, Imamoto A, Matsuo K, Tanahashi Y, Azuma H, Koga M. Age-adjusted glycated albumin accurately reflects blood glucose in patients with neonatal diabetes mellitus: comparison with calculated glycated albumin determined by past blood glucose concentrations. Ann Clin Biochem. 2016;53:117-23.
21. Suzuki S, Nakao A, Sarhat AR, Furuya A, Matsuo K, Tanahashi Y, Kajino H, Azuma H. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. Am J Med Genet A. 2014;164A:476-9.
22. Suzuki S and Koga M. Glycemic control indicators in patients with neonatal diabetes mellitus. World J Diabetes. 2014;5:198-208.
23. Suzuki S, Koga M, Niizeki N, Furuya A, Matsuo K, Tanahashi Y, Azuma H. Age-adjusted glycated albumin: a more robust parameter to establish glycaemic control in neonatal diabetes mellitus. Ann Clin Biochem. 2014;51: 602-5.
24. Furuya A, Suzuki S, Koga M, et al. HbA1c can be a useful glycemic control marker for patients with neonatal diabetes mellitus older than 20 weeks of age. Clin Chim Acta. 2014;436:93-6.
25. Oka H, Suzuki S, Furuya A, Oshima M, Amamiya S, Nakao A, Wada K, Okuhara K, Hayano S, Matsuo K, Tanahashi Y, Azuma H. Glycemic control and motor development in a patient with intermediate DEND. Pediatr Int. 2014;56:432-5.
26. Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T. Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study. Endocr J. 2014; 61: 35-40.
27. Suzuki S, Koga M, Niizeki N, Furuya A, Takahashi H, Matsuo K, Tanahashi Y, Kawata Y, Asai H, Tsuchida E, Nohara F, Okamoto T, Nagaya K, Azuma H. Evaluation of glycated hemoglobin and fetal hemoglobin-adjusted HbA1c measurements in infants. Pediatr Diabetes. 2013;14:267-72.
28. Suzuki S, Koga M, Niizeki N, Furuya A, Takahashi H, Matsuo K, Tanahashi Y, Kawata Y, Asai H, Tsuchida E, Nohara F, Okamoto T, Nagaya K, Azuma H. Glycated albumin is lower in infants than in adults and correlated with both age and serum albumin. Pediatr Diabetes. 2013: 14: 25–30.
29. Koga M, Suzuki S, Matsuo K, Tanahashi Y, Azuma H, Kasayama S. Calculation of HbA1c and glycated albumin from serially measured self-monitored blood glucose in patients with type 1 diabetes mellitus. Clin Chim Acta. 2013;425:188-91.
30. Matsuo K, Mukai T, Furuya A, Suzuki S, Tanahashi Y, Azuma H. A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia. Clin Pediatr Endocrinol. 2013;22:73-6.
31. Yorifuji T, Kawakita R, Hosokawa Y, Fujimaru R, Matsubara K, Aizu K, Suzuki S, Nagasaka H, Nishibori H, Masue M. Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of K(ATP) -channel hyperinsulinism. Clin Endocrinol (Oxf). 2013;78:891-897.
32. Suzuki S, Koga M, Takahashi H, Matsuo K, Tanahashi Y, Azuma H. Glycated albumin in patients with neonatal diabetes mellitus is apparently low in relation to glycemia compared with that in patients with type 1 diabetes mellitus. Horm Res Paediatr. 2012;77:273-276.
33. Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Axial Spondylometaphyseal Dysplasia:Additional Reports. Am J Med Genet Part A. 2011;155A:2521-2528.
34. Suzuki S, Koga M, Amamiya S, Nakao A, Wada K, Okuhara K, Hanano S, Sarhat AR, Takahashi H, Matsuo K, Tanahashi Y, Fujieda K. Glycated albumin but not HbA1c reflects glycaemic control in patients with neonatal diabetes mellitus. Diabetologia. 2011;54:2247-2253.
35. Koga M, Murai J, Saito H, Yamada Y, Mori T, Suno S, Takeuchi K, Suzuki S, Fujieda K, Kasayama S. Measurement of glycated hemoglobin and glycated albumin in umbilical cord: evaluation of the glycemic control indicators in neonates. J Perinatol. 2011;6:430-433.
36. Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K. Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. Clin Genet. 2010;78:580-4.
37. Matsuo K, Mukai T, Suzuki S, Fujieda K. Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan. Pediatr Int. 2009;51:559-62.
38. Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab. 2007; 92:3979-85.
39. Suzuki S, Mukai T, Uetake K, Sageshima S, Matsuo K, Ueda O, Ito Y, Fujieda K: Permanent Neonatal Diabetes Mellitus with Growth Disturbance, Developmental Delay, Epilepsy and Dysmorphic Features. Clinical Pediatric Endocrinology. 2005; 14(suppl 24):81-84.


X
  • Won-Kyoung Cho, South Korea
Affiliation
St. Vincent's Hospital, The Catholic University of Korea
Session
[Symposium 6: Thyroid] Oct. 7, 2022 (Fri.) 14:30-16:00 - Speaker
Topic
Immunogenetics of Autoimmune Thyroid Diseases
Biography
Name: Won-Kyoung Cho
Titles: M. D., Ph. D.
Certified Pediatrician (certified by Korea Pediatric Society)
Certified Pediatric Endocrinologist (certified by Korea Endocrine Society)
Occupation: Associate professor, Department of Pediatrics,
St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul
Work address: 93, Jungbu-daero, Paldal-gu, Suwon-si, Gyeonggi-do, Republic of Korea

Education, research and professional experience:
1997-2003 Chung-ang University, School of Medicine.
2004-2007 Resident, Department of Pediatrics, The Catholic University of Korea, Catholic medical center
2008-2010 Fellow, Division of Endocrinology and Metabolism, Department of Pediatric, Seoul St. Mary's Hospital, The Catholic University of Korea
2011-2011 Clinical assistant professor, Department of Pediatrics, Incheon St. Mary's Hospital, The Catholic University of Korea, Seoul
2012-2016 Clinical assistant professor, Department of Pediatrics,
Seoul St. Mary's Hospital, The Catholic University of Korea
2017-2017 Clinical assistant professor, Department of Pediatrics,
St. Vincent's Hospital, The Catholic University of Korea
2018-2020 Assistant professor, Department of Pediatrics,
St. Vincent's Hospital, The Catholic University of Korea
2021- Present. Associate professor, Department of Pediatrics, St. Vincent's Hospital, College of
Medicine, The Catholic University of Korea

Editorship
Associate editor, Annals of Pediatric Endocrinology & Metabolism (APEM)

Awards
2010 The Korean Pediatric Society GSK Excellence Abstract Award
2014 European society Paediatirc endocrinology Travel grant
2015 Korean Society of Pediatric Endocrinology New Researcher Award
2021 Korean Society of Pediatric Endocrinology Academic Award

Research Interests
Autoimmune thyroid disease (immnogenetics, difference between early onset and late onset type, gender dimorphism in disease prevalence and biology, etc), Epidemiologic and prognosis-related studies of pediatric endocrine diseases using public data. Genetic diagnosis and treatment of rare diseases

Publications
73 publications with 253 citations from the Web of Science core collection
(https://publons.com/dashboard/records/publication/)

1. Catch-up growth and catch-up fat in children born small for gestational age, Korean Journal of Pediatrics on January 01, 2016
2. Association of Toll-Like Receptor 10 Polymorphisms with Autoimmune Thyroid Disease in Korean Children, Thyroid on February 01, 2015
3. HLA alleles, especially amino-acid signatures of HLA-DPB1, might contribute to the molecular pathogenesis of early-onset autoimmune thyroid disease, Plos One on May 15, 2019
4. Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children, Hormone Research in Paediatrics on September 27, 2011
5. Primary ovarian dysfunction after hematopoietic stem cell transplantation during childhood: busulfan-based conditioning is a major concern, Journal of Pediatric Endocrinology and Metabolism in December, 2011
6. Low bone mineral density in adolescents with leukemia after hematopoietic stem cell transplantation: prolonged steroid therapy for GvHD and endocrinopathy after hematopoietic stem cell transplantation might be major concerns? Bone Marrow Transplantation on January 01, 2017
7. Effect of body mass index on peak growth hormone level after growth hormone stimulation test in children with short stature, ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 2021
8. Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea. Ann Lab Med.2021
9. Association between Parent’s Metabolic Syndrome and 12- to18Year-Old Offspring’s Overweight: ResultsfromtheKoreaNational Health and Nutrition Examination Survey (KNHANES) 2009–2016, International journal of Endocrinology , 2020
10. Polymorphisms of IRAK1 Gene on X Chromosome Is Associated with Hashimoto Thyroiditis in Korean Children, ENDOCRINOLOGY, 2020
11. GPR174andITM2AGene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease, GENES, 2020
12. Predicting First-Year Growth in Response to Growth Hormone Treatment in Prepubertal Korean Children with Idiopathic Growth Hormone Deficiency: Analysis of Data from the LG Growth Study Database, JKMS, 2020
13. The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down’s Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data, JOURNAL OF KOREAN MEDICAL SCIENCE, 2020
14. Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation, JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018


X
  • Xiumin Wang, China
Affiliation
Shanghai Children’s Medical Center (SCMC), Shanghai Jiaotong University School of Medicine
Session
[Symposium 4: Bone and Calcium] Oct. 7, 2022 (Fri.) 10:15-11:45 - Speaker
Topic
Genetic Factors Regulating the Growth Plate and Short Stature
Biography
Dr. Xiumin Wang (Sherry)

Department of Endocrinology, Metabolism and Genetics
Shanghai Children’s Medical Center (SCMC), Shanghai Jiaotong University School of Medicine.

Dr. Xiumin Wang is in-charge of the overall supervision of Endocrinology and Metabolism and Genetics clinic service in SCMC since 2015. She is also Clinical Professor in Shanghai Jiaotong University School of Medicine (Paediatrics and genetics), playing an active role in providing endocrinology and medical genetic education to both undergraduates and postgraduate trainees.
Dr Wang’s special interests include pediatric endocrinology, dysmorphology, molecular genetics. She has more than 150 publications in local, national and international international peer reviewed medical/genetic journals and has been a keynote/symposium speaker at various paediatrics, genetics & genomics symposia.

Some recent publications
1. Feng B, Chang G, Zhang Q, Li X, Tang Y, Gu S, Wang Y, Wang J, Wang X. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth. Mol Genet Genomic Med. 2022 Apr 17:e1951. doi: 10.1002/mgg3.1951.
2. Chen Y, Chen J, Tang Y, Zhang Q, Wang Y, Li Q, Li X, Weng Z, Huang J, Wang X, Liu S. Difference of Precocious Puberty Between Before and During the COVID-19 Pandemic: A Cross-Sectional Study Among Shanghai School-Aged Girls. Front Endocrinol (Lausanne). 2022 Mar 21;13:839895. doi: 10.3389/fendo.2022.839895.
3. Zhang Y, Zhao X, Xu Y, Chen L, Li N, Yao R, Wang X, Wang J, Yu T. Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24. Transl Pediatr. 2022 Apr;11(4):448-457. doi: 10.21037/tp-21-570.
4. Chang G, Li Q, Li N, Li G, Li J, Ding Y, Huang X, Shen Y, Wang J, Wang X. Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children. BMC Endocr Disord. 2022 Mar 16;22(1):70. doi: 10.1186/s12902-022-00941-8.
5. Qianwen Zhang, Yu Ding, Biyun Feng, Yijun Tang, Yao Chen, Yirou Wang, Guoying Chang, Shijian Liu, Jian Wang, Qian Li*, Lijun Fu* and Xiumin Wang*. Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients. Front Genet. 2022 Feb 8;13:808919. doi: 10.3389/fgene.2022.808919.
6. Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Clinical profiles and genetic spectra of 814 Chinese children with short stature. J Clin Endocrinol Metab. 2022 Mar 24;107(4):972-985.
7. Li G, Chang G, Wang C, Yu T, Li N, Huang X, Wang X, Wang J, Wang J, Yao R. Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report. BMC Med Genomics. 2021 Aug 21;14(1):207. doi: 10.1186/s12920-021-01055-1. PMID: 34419044; PMCID: PMC8379828.
8. Zhang Q, Yao R, Li Q, Li X, Feng B, Chang G, Wang J, Wang X. A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report. BMC Med Genomics. 2021 Aug 11;14(1):201. doi: 10.1186/s12920-021-01048-0. PMID: 34380476.
9. Ding Y, Li N, Lou D, Zhang Q, Chang G, Li J, Li X, Li Q, Huang X, Wang J, Jiang F, Wang X. Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia. J Diabetes Investig. 2021 Jan;12(1):48-62. doi: 10.1111/jdi.13322.
10. Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, Zhang S, Liang C, Chen Q, Gao Z, Zhu Y, Zhang S, Li W, Lu W, Zhang Y, Xie H, Liu F, Wang Q, Lin Y, Liu L, Wang X, Liang L, Zhong J, Li H, Qiu H, Zhang H, Yan M, Mireguli M, Liu Y, Zhang D, Wang H, Lv H, Xie B, Gui C, Cui X, Zou L, Wang J, Gusella JF, Shen Y, Chen X. CNV profiles of Chinese pediatric patients with developmental disorders. Genet Med. 2021 Jan 5. doi: 10.1038/s41436-020-01048-y.
11. Qun Li#, Guoying Chang#, LeiYin, Juan Li, Xiaodong Huang, Yongnian Shen, Guoqiang Li, Yufei Xu, JianWang*, XiuminWang*, Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome, Sci Rep,2020 Dec 4;10(1):21224.
12. Sun L, Zhang Q, Li Q, Tang Y, Wang Y, Li X, Li N, Wang J, Wang X. A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature. BMC Med Genet. 2020 Oct 31;21(1):215.
13. Wang Y, Li N, Su Z, Xu Y, Liu S, Chen Y, Li X, Shen Y, Hung C, Wang J, Wang X, Bodamer O. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. Am J Med Genet A,2020, 182(4):640-651.
14. Yi-Rou Wang, Nai-Xin Xu, Jian Wang, Xiu-Min Wang. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms. World J Pediatr (2019). 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4.
15. Li N, Xu Y, Zhang Y, Li G, Yu T, Yao R, Zhou Y, Shen Y, Yin L, Wang X, Wang J. Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture. Orphanet J Rare Dis. 2019 Nov 21;14(1):265. doi: 10.1186/s13023-019-1241-z.
16. Yao R, Yu T, Xu Y, Yu L, Wang J, Wang X, Wang J, Shen Y. Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children. Genes (Basel). 2019 Oct 26;10(11). pii: E847. doi: 10.3390/genes10110847.
17. Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X. TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. BMC Pediatr. 2019 Jul 11;19(1):233. doi:10.1186/s12887-019-1608-2. PubMed PMID: 31296181.
18. Xu Y, Wang Y, Li N, Yao R, Li G, Li J, Ding Y, Chen Y, Huang X, Chen Y, Qing Y, Yu T, Shen Y, Wang X, Shen Y, Wang J. New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development. Eur J Endocrinol. 2019 Jul 1. pii: EJE-19-0111.R1. doi:10.1530/EJE-19-0111.
19. Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clin Genet. 2019 Oct;96(4):290-299.
20. Chen H, Li X, Liu X, Wang J, Zhang Z, Wu J, Huang M, Guo Y, Li F, Wang X, Fu L. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet J Rare Dis. 2019 Feb 7;14(1):29. doi: 10.1186/s13023-019-1010-z. PubMed PMID: 30732632.


X
  • Young Ah Lee, South Korea
Affiliation
Seoul National University Children’s Hospital
Session
[Symposium 6: Thyroid] Oct. 7, 2022 (Fri.) 14:30-16:00 - Speaker
Topic
Management of Pediatric Thyroid Cancer: What should be Considered?
Biography
Educational background

2014/PhD / Seoul National University College of Medicine/ South Korea
2009/ MA / Seoul National University College of Medicine/ South Korea
2002/ MD / Seoul National University College of Medicine/South Korea


Professional experience (in sequence of the latest year)

2016 –Present / Associate professor / Seoul National University Children’s Hospital
2009 – 2015 / Assistant professor / Seoul National University Children’s Hospital
2007– 2008/ Clinical fellow / Seoul National University Children’s Hospital
2003 – 2006 / Resident / Seoul National University Children’s Hospital


Research Interests

Pediatric thyroid disease
Adrenal androgens and puberty
Craniopharyngioma
Endocrine disrupting chemical


Publications (main author since 2020)

1. Lee HJ, Lim YH, Hong YC, Shin CH, Lee YA*. Body Mass Index Changes and Insulin Resistance at Age 4: A Prospective Cohort Study. Front Endocrinol (Lausanne). 2022 May 23;13:872591 (*Corresponding author)

2. Lee YJ, Lim YH, Shin CH, Kim BN, Kim JI, Hong YC, Cho YM, Lee YA*. Relationship between bisphenol A, bisphenol S, and bisphenol F and serum uric acid concentrations among school-aged children. PLoS One. 2022 June 16; 17(6): e0268503. (*Co-corresponding author)

3. Lee YA*, Lee H, Im SW, Song YS, Oh DY, Kang HJ, Won JK, Jung KC, Kwon D, Chung EJ, Hah JH, Paeng JC, Kim JH, Choi J, Kim OH, Oh JM, Ahn BC, Wirth LJ, Shin CH, Kim JI, Park YJ. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake. J Clin Invest. 2021 Sep 15;131(18):e144847 (*Co-first author)

4. Lee YJ, Cho YJ, Heo YJ, Chung EJ, Choi YH, Kim JI, Park YJ, Shin CH, Lee YA*. Thyroid nodules in childhood-onset Hashimoto's thyroiditis: Frequency, risk factors, follow-up course and genetic alterations of thyroid cancer. Clin Endocrinol (Oxf). 2021 Oct;95(4):638-648. (*Corresponding author)

5. Lee YJ, Jung HW, Kim HY, Choi YJ, Lee YA*. Early-Life Exposure to Per- and Poly-Fluorinated Alkyl Substances and Growth, Adiposity, and Puberty in Children: A Systematic Review. Front Endocrinol (Lausanne). 2021 Sep 9;12: 683297. (*Corresponding author)

6. Lim SG, Lee YA*, Jang HN, Kong SH, Ahn CH, Kim SW, Shin CH, Kim JH. Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Front Endocrinol (Lausanne). 2021 Oct 12; 12: 761258. (*Co-corresponding author)

7. Heo YJ, Lee YJ, Lee K, Kim JH, Shin CH, Lee YA*, Song J. Total, bioavailable and free 25-hydroxyvitamin D levels as functional indicators for bone parameters in healthy children. PLoS One. 2021 Oct 14; 16(10):e0258585. (Co-corresponding author)

8. Jung HW, Kim HY, Kim JY, Cheon JE, Kim IO, Kim SK, Shin CH, Yang SW, Lee YA*. Cardiac autonomic dysfunction is associated with hypothalamic damage in patients with childhood-onset craniopharyngioma. PLoS One. 2021 Feb 16;16(2):e0246789. (*Corresponding author)

9. Lee YA*, Yun HR, Lee J, Moon H, Shin CH, Kim SG, Park YJ. Trends in Pediatric Thyroid Cancer Incidence, Treatment, and Clinical Course in Korea during 2004-2016: A Nationwide Population-Based Study. Thyroid. 2021 Jun;31(6):902-911. (*Co-first author)

10. Kim HY, Kim KN, Shin CH, Lim YH, Kim JI, Kim BN, Hong YC, Lee YA*. The Relationship Between Perfluoroalkyl Substances Concentrations and Thyroid Function in Early Childhood: A Prospective Cohort Study. Thyroid. 2020 Nov;30(11):1556-1565. (*Corresponding author)

11. Kim JH, Lee YA*, Lim YH, Lee K, Kim BN, Kim JI, Hong YC, Yang SW, Song J, Shin CH. Changes in Adrenal Androgens and Steroidogenic Enzyme Activities From Ages 2, 4, to 6 Years: A Prospective Cohort Study. J Clin Endocrinol Metab. 2020 Oct 1;105(10):dgaa498. (*Co-corresponding author)

12. Lee YA*, Im SW, Jung KC, Chung EJ, Shin CH, Kim JI, Park YJ. Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas. Thyroid. 2020 Aug;30(8):1120-1131. (Co-first author)

13. Kim KN, Kim HY, Lim YH, Shin CH, Kim JI, Kim BN, Lee YA*, Hong YC. Prenatal and early childhood phthalate exposures and thyroid function among school-age children. Environ Int. 2020 Aug;141:105782. (*Co-corresponding author)

14. Choi YJ, Lee YA*, Hong YC, Cho J, Lee KS, Shin CH, Kim BN, Kim JI, Park SJ, Bisgaard H, Bønnelykke K, Lim YH. Effect of prenatal bisphenol A exposure on early childhood body mass index through epigenetic influence on the insulin-like growth factor 2 receptor (IGF2R) gene. Environ Int. 2020 Jul 6;143:105929. (Co-first author)

15. Jung HW, Kim HY, Kim JY, Cheon JE, Kim IO, Kim SK, Shin CH, Yang SW, Lee YA*. Autonomic Dysfunction is Associated with Increased Cardiometabolic Risk in Patients with Childhood-Onset Craniopharyngioma. Horm Metab Res. 2020 Jul;52(7):500-508. doi: 10.1055/a-1169-0307. (*Corresponding author)


X
  • Young Suk Shim, South Korea
Affiliation
Ajou Unviersity
Session
[Symposium 7: Nutrition, Obesity & Type 2 DM] Oct. 8, 2022 (Sat.) 11:45-13:15 - Speaker
Topic
Big Data Analysis of Obesity and Metabolic Syndrome
Biography
Education and Qualifications

March . 02, 1993 - Feb . 24, 1996 :Chun-Chon High School - High school
March . 02, 1996 - Feb . 20, 2003 :Kangwon National Nniversity College of Medicine - Medical school
March . 02, 2010 - Feb . 10, 2011 :Hanyang University College of Medicine Dept of Microbiology - Graduate school


Employment History

April,06,2004 – April,05,2007 :Internship training In Hangang Sacred Heart Hospital, Hallym Medical Center - Intern
May,02,2007 – Feb.28,2008 :Pediatrics resident training in Hangang Sacred Heart Hospital, Hallym Medical Center - Pediatric resident
May,02,2008 – Feb.28,2010 :Pediatrics resident training In Kangnam Sacred Heart hospital, Hallym Medical center - Pediatric resident
May,02,2010 – Feb.28,2012 :Pediatric endocrinology Fellowship in Kangdong Sacred Heart Hospital, Hallym Medical Center - Pediatric endocrinology Fellow
Mar,02, 2012 – Feb,28,2013 :Pediatric endocrinology Fellowship in Ajou University Medical Center - Pediatric endocrinology Fellow
Mar,04,2013 – Aug,31,2014 :Pediatric clinical assistant professor in Hallym University Dongtan Sacred Heart Hospital - Pediatric endocrinology Staff
Sept,01,2014 – Aug,31,2017 :Pediatric assistant professor in Hallym University Dongtan Sacred Heart Hospital - Pediatric endocrinology Staff
September,01,2017 :Pediatric assistant professor in Ajou University Hospital - Pediatric endocrinology Staff


History of clinical study

2014.11 ~ 2020.08 LG Growth study


X
  • Azriyanti binti Anuar Zaini, Malaysia
Affiliation
University of Malaya
Session
[Meet the Expert 5] Oct. 8, 2022 (Sat.) 08:00-09:45 - Speaker
Topic
Interpretation of Thyroid Function Tests
Biography
Job title: Associate Professor, Consultant Paediatrician, Consultant Paediatric
Endocrinologist and Senior Lecturer

EDUCATION
Undergraduate: MEDICAL SCHOOL, FACULTY OF MEDICINE, UNIVERSITY MALAYA (MBBS)
Postgraduate: MASTERS OF PAEDIATRIC, DEPARTMENT PAEDIATRIC, FACULTY OF MEDICINE, UNIVERSITY MALAYA

ACADEMIC ACHIEVEMENTS

1998-2002 MBBS (Mal) – University Malaya
2005-2009 MASTERS OF PEDIATRICS- University Malaya
2011-2013 Clinical and Research Fellowship in Paediatric Endocrinology in JR Radcliff Oxford University Hospital, UK
2015 Completed Paediatric Endocrine Fellowship Training

WORKING EXPERIENCE

Dates: Place Designation Discipline
SEPT 2002- APRIL 2003 HOSPITAL SEBERANG JAYA PULAU PINANG
(House Officer / Medicine, orthopaedic)
APRIL 2003 –JUNE 2004 UNIVERSITY MALAYA MEDICAL CENTRE
(House Officer, Junior Medical Officer/Surgery, Paediatrics
O&G)
JULY 2004-MAY 2005 KLINIK KESIHATAN SHAH ALAM (DAERAH PETALING)
(Medical and Health Officer / Community)
JUNE 2006-NOV 2009 UNIVERSITY MALAYA MEDICAL CENTRE
(Masters student, trainee lecturer /Paediatrics – including 6 months Paeds Endocrine training)
DEC 2009-DEC 2010 UNIVERSITY MALAYA MEDICAL CENTRE
(Pediatrician, lecturer /Pediatrics – General, Intensive care and Paeds Endocrine attachment)
FEB 2011- Dec 2013 OXFORD UNIVERSITY HOSPITAL (prev known; JOHN RADCLIFF CHILDREN’S HOSPITAL) OXFORD, UK
(Clinical Research Fellow /Paediatric Diabetes and Endocrine Paediatric diabetes and endocrine)
Jan2014 until August 2015 UNIVERSITY MALAYA MEDICAL CENTRE (UMMC)
(Pediatrician, Lecturer/Fellow in Training Paediatric Endocrine and Diabetes Unit)
August 2015 – Nov 2016 UMMC Paediatric Endocrinologist
Nov 2016 UMMC (Paediatric Endocrine and Diabetes Unit)
Jan 2018 till present UMSC +UMMC
(Consultant Paediatric Endocrinologist and Trainer for Malaysian Paediatric Endocrine Subspeciality program

PUBLICATIONS

Books:

1. Azriyanti AZ, Jalaludin MY, Tan ATB. Lina Ada Diabetes. Kuala Lumpur: University Malaya Medical Centre, 2017. ISBN:978-967-10246-3-8

2. Azriyanti AZ, Jalaludin MY. Ready, Get Set, Grow. Kuala Lumpur: Merck Sdn Bhd, 2017. ISBN 978-967-14780-0-4

3. Azriyanti AZ, Noor Shafina MN, Wu LL et al. Malaysian Paediatric Endocrinology Atlas. Kuala Lumpur: Malaysian Endocrine and Metabolic Society, 2018. ISBN: 978-967-14119-1-9

4. Azriyanti AZ et al. Akil Baligh di kalangan kanak-kanak perempuan. Kuala Lumpur: University Malaya Medical Centre, 2018. ISBN: 978-967-10246-6-9

5. Azriyanti AZ et al. Akil Baligh dalam kalangan kanak-kanak lelaki. Kuala Lumpur: University Malaya Medical Centre, 2019. ISBN: 978-967-10126-9-0

6. Rokiah Ismail, Hazlin Hassim & Che Shafini Johari. Editors: Azriyanti Anuar Zaini, Muhammad Yazid Jalaludin. Diet & Diabetes. University Malaya Medical Centre, 2019. ISBN: 978-967-10246-8-3

7. Management of Thyroid Disorders. Clinical Practice Guidelines 2019/MOH/P/PAK/434.19(GU)-e. External Reviewer.

8. Azriyanti Anuar Zaini: Chapter 75, Diabetes Mellitus p336-340. Textbook of Paediatrics and Child Health. Kuala Lumpur: University of Malaya Press, 2020. ISBN 978-967-488-115-3

9. Azriyanti Anuar Zaini: Chapter 76, Thyroid Disorder p341-343. Textbook of Paediatrics and Child Health. Kuala Lumpur: University of Malaya Press, 2020. ISBN 978-967-488-115-3

10. Azriyanti Anuar Zaini: Chapter 77, Disorder of Sexual Development p344-346. Textbook of Paediatrics and Child Health. Kuala Lumpur: University of Malaya Press, 2020. ISBN 978-967-488-115-3

11. Azriyanti AZ, Muhammad Yazid Jalaludin, Thong MK. Understanding Turner Syndrome. Kuala Lumpur: University Malaya Medical Centre, Novo Nordisk 2020. ISBN:

Statistics:
H-Index: 20.31
Citation : 50
ISIWoS publications/ Full paper:

1. Blowfield, A Anuar, F Ryan, A Qureshi. Vitamin D deficiency in a cohort of children with acute lymphoblastic leukaemia. BRITISH JOURNAL OF HAEMATOLOGY 2013; 161 (SI), 67-68

2. Marcelle Simeonovic, Azriyanti Anuar, Julie Edge, Tafadzwa Makaya. Lipoatrophy: re‐emerging with analogue insulins. Is there a link with CSII?. Practical Diabetes, May 2014. http://dx.doi.org/10.1002/pdi.1855

3. K. S. Alatzoglou, A. Azriyanti, N. Rogers, F. Ryan, N. Curry, C. Noakes, P. Bignell, G. W. Hall, A. S. Littooij, D. Saunders, P. Thomas, H. Stewart and M. T. Dattani. SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal. The Journal of Clinical Endocrinology and Metabolism 99 (12), E2702-E270. http://dx.doi.org/10.1210/jc.2014-1160

4. Sze Lyn Jeanne Wong, Muhammad Yazid Jalaludin, Azriyanti Anuar Zaini, Nurshadia Samingan, and Fatimah Harun. Congenital Hypothyroidism: An Audit and Study of Different Cord Blood Screening TSH Values in a Tertiary Medical Centre in Malaysia. Advances in Endocrinology Volume 2015 (2015) http://dx.doi.org/10.1155/2015/387684

5. Golbabapour, S; Jalaludin, MY; Anuar, A,; Chinna, K; Nathan, AM; De Bruyne, J, Thavagnanam, S. INFLAMMATION AND METABOLIC DYSREGULATION IN MALAYSIAN OBESE CHILDREN. RESPIROLOGY 2015, 20 (supp 3), 122

6. Noor Shafina MN, Choong YF, Kartini R, Wan MVK, Azriyanti AZ, Jalaludin MY. Ischemic Hemorrhagic Stroke in Type 1Diabetes Mellitus. European Endocrinology 2018, 59-61

7. Lim, Pamela MS, Jamaludin Nur IA, Samrin Siti NA, Safii Nik S, Ismail Rokiah, Anuar Zaini A, Mohd Jamil S. Causative Factors of Eating Problems Among Adolescents with type 1 diabetes Mellitus; A Qualititative Study. Journal of Health Psychology 2019

8. Samsuddin, Syahrizan; Arumugam, Premila Arul; Md Amin, Md Syazwan; Yahya, Abqariyah; Musa, Nurbazlin; Lim, Lee Ling; Paramasivam, Sharmila Sunita; Ratnasingam, Jeyakantha; Ibrahim, Luqman; Chooi, Kheng Chiew; Tan, Alexander Tong Boon; Tan, Peng; Omar, Siti Zawiah; Samingan, Nurshadia; Ahmad Kamar, Azanna; Anuar Zaini, Azriyanti; Jalaludin, Muhammad Yazid; Vethakkan, Shireene Ratna. Maternal lipids are associated with newborn adiposity independent of GDM status, obesity and insulin resistance: a prospective observational cohort study. International Journal of Obstetrics & Gynaecology (BJOG) Accepted 22 Nov 2019.

9. Ting Y-W, Wong S-W, Anuar Zaini A, Mohamed R and Jalaludin MY (2019) Metabolic Syndrome Is Associated With Advanced Liver Fibrosis Among Pediatric Patients With Non-alcoholic Fatty Liver Disease. Front. Pediatr. 7:491 Published 26 November 2019

10. Rashdan Zaki Mohamed, Muhammad Yazid Jalaludin, Azriyanti Anuar Zaini. Predictors of Non-alcoholic Fatty Liver Disease (NAFLD) Among Children with Obesity. Journal of Paediatric Endocrinology and Metabolism. Accepted 22 Nov 2019- published 11 Jan 2020

11. Azriyanti Anuar Zaini, Tung Yu Feng, Nor Faizal Ahmad Bahuri, Muhammad Yazid Jalaludin. Congenital Hypothyroidism in Children- A Cross-Sectional Study in a Tertiery Centre in Malaysia. Journal of Asian Federation of Endocrine Societies. Accepted 5th February 2020. Published Vol 35, May 2020.

12. Aishah Emi, Wan Ying Gan, Zalilah Mohd Shariff, Azriyanti Anuar Zaini, Nurainul Hana Shamsuddin, Mahendran Appukutty, Geetha Appannah. Associations of an Empirical Dietary Pattern with Cardiometabolic Risk Factors in Malaysian Adolescent. Nutrition and Metabolism. Accepted 24th March 2020

13. Karmila Abu Bakar, Khairunnisa Khalil, Yam Ngo Lim, Yok Chin Yap, mirunalini appadurai, Chee Sing Lai, Sangeet Sidhu, Azriyanti Anuar Zaini, Nurshadia Samingan, Muhammad Yazid Jalaludin. Adrenal Insufficiency in Children with Nephrotic Syndrome on Corticosteroid Treatment. Frontiers in Pediatrics. Accepted 23 March 2020

14. Aishah Emi, Wan Ying Gan, Zalilah Mohd Shariff, Azriyanti Anuar Zaini, Nurainul Hana Shamsuddin, Mahendran Appukutty, Geetha Appannah. Evaluation of dietary quality using Malaysian Healthy Eating Index and its relationships with cardiometabolic risk factors in Malaysian Adolescents. Malaysian Journal of Medicine and Health Sciences. Accepted 2 July 2020 **Scopus indexed

15. Geetha Appannah, Aishah Emi, Wan Ying Gan, Zalilah Mohd Shariff, Azriyanti Anuar Zaini, Nurainul Hana Shamsuddin, Mahendran Appukutty. The relationships between a dietary pattern linked to cardiometabolic risk factors and life satisfaction in early adolescence. International Journal of Environmental Research and Public Health (IJERPH) accepted 14 July 2020

16. Nur Syazwin Sies, Azriyanti Anuar Zaini, Jessie de Bruyne, Muhammad Yazid Jalaludin, Anna Nathan, Yit Ng, Surendran Thavagnanam. Obstructive sleep apnoea syndrome (OSAS) as a risk factor for secondary osteoporosis in children. Scientific Reports 2021(11:3193). Published 4th Feb 2021

17. Meenal Mavinkurve, Muhammad Yazid Jalaludin, Elaine W. Chan, Mazidah Noordin, Nurshadia Samingan, Annie Leong, Azriyanti A. Zaini. Is Misdiagnosis of Type 1 Diabetes Mellitus in Malaysian Children a Common Phenomenon? Frontiers in Endocrinology (accepted 25 January 2021)

18. Dimitri P, Fernandez-Luque L, Banerjee I, Bergadá I, Calliari LE, Dahlgren J, de Arriba A, Lapatto R, Reinehr T, Senniappan S, Thomas-Teinturier C, Tsai M, Anuar Zaini A, Bagha M, Koledova E
An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy
J Med Internet Res 2021;23(5):e27446. doi: 10.2196/27446

19. Geeta Appannah ,Nor Aishah Emi, Mugambikai Magendiran, Zalilah Mohd Shariff, Azriyanti Anuar Zaini, Nurainul Hana Shamsuddin, Subapriya Suppiah, Suraini Mohamad Saini, Subashini C Thambiah, Siew Mooi Ching. PUTRA-ADOL Study: protocol for an observational follow-up study to assess the tracking of dietary patterns linked to cardiometabolic risk factors and its prospective relationship with non-alcoholic fatty liver disease, carotid intima-medial thickness and mental well-being during adolescence in Malaysia. BMJ Open 2021;11:e044747. doi:10.1136/ bmjopen-2020-044747

20. Meenal Mavinkurve, Azriyanti Anuar Zaini, Muhammad Yazid Jalaludin. The Short Child: Importance of early detection and timely referral. Malaysian Family Physician 2021; 16(3)
21. Loo BKG, Okely AD, Pulungan A, Muhammad Yazid Jalaludin. Asia-Pacific Consensus Statement on integrated 24-hour activity guidelines for children and adolescents. Br J Sports Med EpubMed 2021;0:1–7. doi:10.1136/ bjsports-2021-104527. * Dr Azriyanti Anuar Zaini is an author for this paper as well

EXPERT PANEL
1. MPA/ABBOTT Expert panel for IMFeD or the Identification & Management of Feeding Difficulties “Get Growth on Track 2017-2022”

2. Novo Nordisk Expert Panel for a new innovative digital solution developed by Novo Nordisk called Growth JourneyTM. 2019-2020

3. MERCK Expert panel for online advisory board on eHealth for Growth Hormone Deficiency 2019-2022

4. Subspecialty Education Subcommittees (Paediatric Endocrinology), Medical Education Committee, Malaysian Medical Council (MMC)

5. A4D Healthcare Professional Advisory Group 2021

6. Novo Nordisk Malaysia Adolescent Obesity Advisory Board 2022.

7. Asia-Pacific (APAC) Core X-linked hypophosphatemia (XLH) Working Group 2022 (voting expert advisor)

RESEARCH / GRANTS
1. TRACKING OF DIETARY PATTERN LINKED TO DYSLIPIDEMIA AND ITS PROSPECTIVE RELATIONSHIP WITH NAFLD, CIMT AND PCOS DURING ADOLESCENCE
Co-investigator, FRGS 2019-2020 (extended 2020-2021)
2. DIABETIC PERIPHERAL NEUROPATHY (DPN) IN CHILDREN AND ADOLESCENTS WITH TYPE 2 DIABETES MELLITUS AND THE IMPACT OF MOTOR FUNCTION AND QUALITY OF LIFE.
Principal Investigator, MEMS 2019-2020 (completed Nov 2021)
3. AUTOIMMUNE THYROID DISEASE IN GIRLS WITH TURNER SYNDROME: A MULTICENTER STUDY. Co-investigator 2020-2021, MEMS Grant by PI(ongoing)
4. THE INITIATION OF CLINICAL PATHWAY FOR MEDICAL DENTAL COORDINATED CARE OF T1DM WITH PERIDONTAL DISEASE IN CHILDREN AND ADOLESCENT USING GUIDED QUESTIONNAIRE; MULTICENTRE COLLABORATION UM/UITM. Co-investigator applying UiTM postgraduate research Grants 2020 (ongoing)
5. DEVELOPING AND TESTING A BILINGUAL AND MALAYSIAN SIGN LANGUAGE ASSISTED SHORT EDUCATIONAL VIDEOS FOR DIABETES PATIENTS IN MALAYSIA. Co-investigator applying FRGS 2021
6. NOVARTIS CKJX839C12301 (ORION-16) STUDY: TWO PART (DOUBLE-BLIND INCLISIRAN VERSUS PLACEBO [YEAR 1] FOLLOWED BY OPEN-LABEL INCLISIRAN [YEAR 2]) RANDOMIZED MULTICENTER STUDY TO EVALUATE SAFETY, TOLERABILITY, AND EFFICACY OF INCLISIRAN IN ADOLESCENTS (12 TO LESS THAN 18 YEARS) WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA AND ELEVATED LDL-CHOLESTEROL. (ongoing)
7. UM HEALTHY BUDDIEZ: CONSTANT INTERACTIONS AND WEEKLY GUIDED PROGRAMME FOR OVERWEIGHT AND OBESE CHILDREN IN UMMC.(ongoing)
8. NOVARTIS CKJX839C12302(ORION-13) PROTOCOL TITLE: TWO PART (DOUBLE-BLIND INCLISIRAN VERSUS PLACEBO [YEAR 1] FOLLOWED BY OPEN-LABEL INCLISIRAN [YEAR 2]) RANDOMIZED MULTICENTER STUDY TO EVALUATE SAFETY, TOLERABILITY, AND EFFICACY OF INCLISIRAN IN ADOLESCENTS (12 TO LESS THAN 18 YEARS) WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA AND ELEVATED LDL-CHOLESTEROL. (ongoing)

Awards:
Sijil Anugerah Cemerlang (Certificate of Excellence) University of Malaya 2016/2017
SIjil Anugerah Cemerlang (Certificate of Excellence) University of Malaya 2017/2018
Anugerah Perkhidmatan Cemerlang (Excellence Award) University of Malaya 2019/2020

Proffessional Affliations :
1. Malaysian Medical Council
2. Academy of Medicine of Malaysia since 2020
3. Malaysian Paediatric Association – Life Member since 2010
4. Malaysian Endocrine and Metabolic Society, MEMS – Since 2014
5. University Malaya Medical Alumni- Treasurer 2018-2020
6. Asia Pacific Paediatric Endocrine Society since 2010 – currently Council Member 2020-2022
7. Malaysian Paediatric Endocrine and Diabetes Group- Secretary 2021-2023
8. European Paediatric Endocrine Society since 2011
9. International Society for Paediatric and Adolescent Diabetes since 2011
10. General Medical Council UK - 2011-2014

Administration:

1. Administrator and Manager for Patient Hospital Funds (PPUMiCare) for children with Diabetes and Growth Hormone disorder.
2. Committee member for Hospital Quality Assessment, and Department Root Cause Analysis (RCA)
3. Committee member for Bright Spark Programme UMMC and Clinical Master
4. Treasurer Faculty of Medicine Alumni 2018-2019
5. Committee member for SLAB/SLAI selection for department of paediatrics
6. Postgraduate Theory Exam Part 1 coordinater 2021
7. Committee for Telemedicine services UMMC 2021


X
  • Ben Wheeler, New Zealand
Affiliation
University of Otago
Session
[Meet the Expert 1] Oct. 6, 2022 (Thu.) 17:15-18:00 - Speaker
Topic
Diabetes Technology
Biography
A/Prof. Benjamin John Wheeler

Head of Child Health / Associate Professor / Paediatric Endocrinologist / Paediatrician
University of Otago / Southern DHB

1. Academic qualifications
2018 PhD Otago University
2010 CCE Auckland University
2009 FRACP RACP
2003 DCH (with Credit) Otago University
2001 MBCHB Otago University

2. Professional positions held
2018 – ongoing - Associate Professor and head of Child Health, Women’s and Children’s Health, Dunedin School of Medicine, UO
2009 – ongoing – Paediatric Endocrinologist – SDHB / Southern region
2016 – ongoing – Co-director New Zealand Paediatric Surveillance Unit,
2011 – ongoing – Visiting Paediatric Endocrinologist – SCDHB
2009 – 2017 – Senior Lecturer, Women’s and Children’s Health, UO
2013 – 2014 – Paediatric Endocrinology Fellow – The Children’s Hospital at Westmead, Sydney, Australia

3. Present research/professional speciality
Current research focus
Particular research and clinical interests in type 1 diabetes, and the application of diabetes related technologies in children and adolescents. With a complimentary interest in equity issues in diabetes, including access to technology, but also improving outcomes for children and youth who are struggling with the burden of diabetes.

4. Professional distinctions and memberships (including honours/prizes/ scholarships; boards or governance roles)

FRACP – Fellow Royal Australasian College of Physicians (dual SAC accreditation Paediatric Endocrinology and General Paediatrics)
APEG – Australasian Paediatric Endocrinology Group
APPES – Asia Pacific Paediatric Endocrinology Society
PSNZ – Paediatric society of New Zealand
ENCDOR – Edgar National Centre for Diabetes and Obesity Research
NZSSD – NZ society for the study of diabetes

2019-present – RACP advanced training committee – General Paediatrics
2021 – ongoing – APEG – Member of Council
2021 –ongoing – APPES – Member of Council.
2020/21 – APEG annual scientific meeting conference organising committee
2020/21 - APPES annual scientific meeting conference organising committee
2019 –current Health Research South Board Member
2017 - Invited member - International expert assessment panel for Childhood Obesity research
2016 – ongoing – Chair Telehealth Leadership Group – Southern DHB
2019 – ongoing – Member editorial board – Pediatric Diabetes.
2018 – ongoing – Editor Journal Diabetes and Metabolic Disease
2018 – ongoing – Editorial Advisory Board – Acta Diabetologica
2019 – Guest editor –Rickets – Frontiers in Endocrinology
2019-2020 – Guest editor – Nutrients
2019 – ongoing – Editorial advisory Board BMC Endocrinology
2016 – DSM – Outstanding sustained contribution to research award
2015 – 2019 - Convener APEG Fellows School –formal training activity for Paediatric Endocrinology trainees in Australasia.
2015 - ongoing - Chairman - South Island Alliance Paed. Diabetes Network
2016 – Student – Yasmin Abdul Aziz - NZ society study of diabetes - Best oral presentation award - Rotorua
2015 – ongoing - Lead for Research National Paed Diabetes Network – MOH
2015 – ongoing - Member of executive National Paediatric Diabetes Network – funded via MOH
2015 - ongoing - Expert advisor NZ Formulary for children
2015 – Student – Philippa Ross – Otago Medical School Research Society - Best oral presentation award
2015 – Student – Philippa Ross – NZ society study of diabetes - Best oral presentation award - Wellington
2015 – Nomination early career research award
2014 – SDHB innovation challenge award – Tele-diabetes clinics
2014 – DSM Best Research Collaboration Award

5. Research publications and dissemination
Peer-reviewed journal articles

1. Rose S, Haszard JJ, Galland BC, Wiltshire EJ, de Bock MI, Smart CE, Ketu-McKenzie M, Campbell A, Thomson R, Jefferies CA, Wheeler BJ, Styles SE. The OPTIMISE study protocol: a multicentre optimisation trial comparing continuous glucose monitoring, snacking habits, sleep extension and values-guided self-care interventions to improve glucose time-in-range in young people (13-20 years) with type 1 diabetes. J Diab Met Disease 2022. In print
2. Elbalshy MM, Haszard JJ, Smith H, Kuroko S, Galland BC, Oliver N, Shah V, de Bock MI, Wheeler BJ. Effect of Divergent Continuous Glucose Monitoring Technologies on Glycaemic Control in Type 1 Diabetes Mellitus: A Systematic Review and Meta-analysis of Randomised Controlled Trials. Diabetic Medicine 2022. Apr 20;e14854. doi: 10.1111/dme.14854
3. Elbalshy MM, Styles S, Haszard JJ, Galland BC, Crocket H, Jefferies C, Wiltshire E, Tomlinson P, de Bock MI, Wheeler BJ. The Effect of Do-It-Yourself Real-Time Continuous Glucose Monitoring on Psychological and Glycemic Variables in Children with Type 1 Diabetes: A Randomized Crossover Trial. Pediatric Diabetes 2022. DOI:10.1111/pedi.13331.
4. Beckett D, Broadbent JM, Loch C, Mahoney EK, Drummond BK, Wheeler BJ. Dental consequences of Vitamin D deficiency during pregnancy and early infancy – an observational study. Int J Enviro Res Pub Health 2022.19, 1932
5. Beckett D, Wheeler BJ, Loch C, Mahoney E, Drummond B, Broadbent JM. Dental health in a cohort of six-year-old New Zealand children who were breastfed as infants. NZ Dental J 2022. Volume 118 March 2022.
6. Rose S, Styles SE, Wiltshire EJ, Stanley J, Galland BC, de Bock MI, Tomlinson PA, Rayns JA, MacKenzie KE, Wheeler BJ. Use of intermittently scanned continuous glucose monitoring in young people with high-risk type 1 diabetes – extension phase outcomes following a 6-month randomised control trial. Diabetic Medicine 2021. https://doi.org/10.1111/dme.14756.
7. Crocket H, Lewis DM, Burnside M, Faherty A, Wheeler BJ, Frewen C, Lever C, Jefferies C, Williman J, Sanders O, Wilson R, Paul R, Price S, Jones S, de Bock M. Learning Challenges of Health Care Professionals Supporting Open-Source Automated Insulin Delivery. Diabetic Medicine. DOI: 10.1111/dme.14750
8. Sehgal S, De Bock M, Williman J, Taylor B, Elbalshy M, Galland B, Hall R, Paul R, Boucsein A, Jones S, Frewen C, Wheeler BJ. Study protocol: Safety and efficacy of smart watch integrated do-it-yourself continuous glucose monitoring in adults with Type 1 diabetes, a randomised controlled trial. J Diab Met Disease 2021.DOI:10.1007/s40200-021-00923-y
9. Robertson CA, Earnest A, Chee M, Craig ME, Colman P, Barrett HL, Bergman P, Cameron F, Davis EE, Donaghue KC, Fegan PG, Hamblin PS, Holmes –Walker DJ, Jefferies C, Johnson S, Mok MT, King BR, Sinnott R, Ward G, Wheeler BJ, Zimmermann A, Jones TW, Couper JJ and the ADDN Study Group. Longitudinal audit of assessment and pharmaceutical intervention for cardiovascular risk in the Australasian Diabetes Data Network (ADDN). Diabetes, Obesity and Metabolism 2021. DOI: 10.1111/dom.14584
10. Crocket H, Elbashy MM, Kavanagh T, Styles S, Galland B, Haszard JJ, Wiltshire E, Jefferies C, de Bock MI, Tomlinson P, Jones S, Wheeler BJ. Parental experiences of short term supported use of a Do-It-Yourself Continuous Glucose Monitor (DIYrtCGM): A qualitative study. Diabetic Medicine 2021. In print.11. Styles S, Wheeler BJ, Boucsein A, Crocket H, de Lange M, Signal D, Wiltshire E, Cunningham V, Lala A, Cutfield W, de Bock M, Serlachius A, Jefferies C. A comparison of FreeStyle Libre 2 to self-monitoring of blood glucose in children with type 1 diabetes and sub-optimal glycaemic control: a 12-week randomised controlled trial protocol. J Diab Met Disease 2021. In print.
12. Wheeler BJ, Collyns OJ, Meir R, Betts ZL, Frampton C, Frewen CM, Galland B, Hewapathirana NM, Jones SD, Chan DS, Roy A, Grosman B, Kurtz N, Shin J, Vigersky RA, de Bock MI. Improved technology satisfaction and sleep quality with Medtronic MiniMed® Advanced Hybrid Closed-Loop delivery compared to predictive low glucose suspend in people with Type 1 Diabetes in a randomized crossover trial. Acta Diab 2021. https://doi.org/10.1007/s00592-021-01789-5
13. Duncanson M, Wheeler BJ, Jelleyman T, Dalziel SR, McIntyre P. Delayed access to care and late presentations in children during the COVID-19 pandemic New Zealand-wide lockdown: A New Zealand Paediatric Surveillance Unit Study. J Paed Child Health 2021. In print.
14. Rose S, Styles S, Galland B, Wiltshire E, Stanley J, Smith C, de Bock M, Rayns J, MacKenzie K, Wheeler BJ. Impact of high-risk glycemic control on habitual sleep patterns and sleep quality among youth (13-20 years) with type 1 diabetes mellitus compared to controls without diabetes. Pediatric Diabetes 2021. In print.
15. Taylor R, Conlon C, Beck K, von Hurst P, Te Morenga L, Daniels L, Haszard J, Meldrum A, McLean N, Cox A, Tukuafu L, Casale M, Brown K, Jones E, Katiforis I, Rowan M, McArthur J, Fleming E, Wheeler BJ, Houghton L, Diana A, Heath AL. Nutritional Implications of Baby-Led Weaning and Baby Food Pouches as Novel Methods of Infant Feeding: Protocol for an Observational Study. JMIR 2021. http://doi.org/10.2196/preprints.29048
16. Marsters B, Shi B, Wheeler BJ, Boucher B, Macaulay G, Galland B, Elder D, Larsen P, Wiltshire E. Advanced ECG Analysis of Cardiac Function in Children and Adolescents with Type 1 Diabetes – A Pilot Study. Acta Diabetoligica 2021. doi: 10.1007/s00592-021-01704-y
17. Collyns OJ, Meier R, Betts ZL, Chan DS, Frampton C, Frewen CM, Hewapathirana NM, Jones SD, Roy A, Grosman B, Kurtz N, Shin J, Vigersky RA, Wheeler BJ and de Bock M. Improved glycemic outcomes with Medtronic MiniMed™ Advanced Hybrid Closed-Loop Delivery; results from a randomised cross-over trial comparing automated insulin delivery with predictive low glucose suspend in people with type 1 diabetes. Diabetes Care 2021. https://doi.org/10.2337/dc20-2250
18. Asarani NA, Paddison P, Walker R, Downie M, Wheeler BJ. New-onset Type 1 diabetes complicated by diabetic ketoacidosis and severe sepsis requiring extracorporeal membrane oxygenation and kidney replacement therapy. J Diab Met Dis 2021. https://doi.org/10.1007/s40200-021-00736-z
19. Aukuso L, de Lange M, Wiltshire E, Jefferies J, Wheeler BJ. Youth and non-European ethnicity are associated with increased loss of publicly funded insulin pump access in New Zealand people with type 1 diabetes. Diabetic Medicine 2020. https://doi.org/10.1111/dme.14450.
20. Elbalshy M, Boucher S, Galland B, Haszard JJ, Crocket H, Wiltshire E, Jefferies C, de Bock MI, Tomlinson P, Jones S, Wheeler BJ. The MiaoMiao study: Can do-it-yourself continuous glucose monitoring technology improve fear of hypoglycaemia in parents of children affected by type 1 diabetes?" J Diab Met Dis 2020. https://doi.org/10.1007/s40200-020-00671-5
11. Styles S, Wheeler BJ, Boucsein A, Crocket H, de Lange M, Signal D, Wiltshire E, Cunningham V, Lala A, Cutfield W, de Bock M, Serlachius A, Jefferies C. A comparison of FreeStyle Libre 2 to self-monitoring of blood glucose in children with type 1 diabetes and sub-optimal glycaemic control: a 12-week randomised controlled trial protocol. J Diab Met Disease 2021. In print.
12. Wheeler BJ, Collyns OJ, Meir R, Betts ZL, Frampton C, Frewen CM, Galland B, Hewapathirana NM, Jones SD, Chan DS, Roy A, Grosman B, Kurtz N, Shin J, Vigersky RA, de Bock MI. Improved technology satisfaction and sleep quality with Medtronic MiniMed® Advanced Hybrid Closed-Loop delivery compared to predictive low glucose suspend in people with Type 1 Diabetes in a randomized crossover trial. Acta Diab 2021. https://doi.org/10.1007/s00592-021-01789-5
13. Duncanson M, Wheeler BJ, Jelleyman T, Dalziel SR, McIntyre P. Delayed access to care and late presentations in children during the COVID-19 pandemic New Zealand-wide lockdown: A New Zealand Paediatric Surveillance Unit Study. J Paed Child Health 2021. In print.
14. Rose S, Styles S, Galland B, Wiltshire E, Stanley J, Smith C, de Bock M, Rayns J, MacKenzie K, Wheeler BJ. Impact of high-risk glycemic control on habitual sleep patterns and sleep quality among youth (13-20 years) with type 1 diabetes mellitus compared to controls without diabetes. Pediatric Diabetes 2021. In print.
15. Taylor R, Conlon C, Beck K, von Hurst P, Te Morenga L, Daniels L, Haszard J, Meldrum A, McLean N, Cox A, Tukuafu L, Casale M, Brown K, Jones E, Katiforis I, Rowan M, McArthur J, Fleming E, Wheeler BJ, Houghton L, Diana A, Heath AL. Nutritional Implications of Baby-Led Weaning and Baby Food Pouches as Novel Methods of Infant Feeding: Protocol for an Observational Study. JMIR 2021. http://doi.org/10.2196/preprints.29048
16. Marsters B, Shi B, Wheeler BJ, Boucher B, Macaulay G, Galland B, Elder D, Larsen P, Wiltshire E. Advanced ECG Analysis of Cardiac Function in Children and Adolescents with Type 1 Diabetes – A Pilot Study. Acta Diabetoligica 2021. doi: 10.1007/s00592-021-01704-y
17. Collyns OJ, Meier R, Betts ZL, Chan DS, Frampton C, Frewen CM, Hewapathirana NM, Jones SD, Roy A, Grosman B, Kurtz N, Shin J, Vigersky RA, Wheeler BJ and de Bock M. Improved glycemic outcomes with Medtronic MiniMed™ Advanced Hybrid Closed-Loop Delivery; results from a randomised cross-over trial comparing automated insulin delivery with predictive low glucose suspend in people with type 1 diabetes. Diabetes Care 2021. https://doi.org/10.2337/dc20-2250
18. Asarani NA, Paddison P, Walker R, Downie M, Wheeler BJ. New-onset Type 1 diabetes complicated by diabetic ketoacidosis and severe sepsis requiring extracorporeal membrane oxygenation and kidney replacement therapy. J Diab Met Dis 2021. https://doi.org/10.1007/s40200-021-00736-z
19. Aukuso L, de Lange M, Wiltshire E, Jefferies J, Wheeler BJ. Youth and non-European ethnicity are associated with increased loss of publicly funded insulin pump access in New Zealand people with type 1 diabetes. Diabetic Medicine 2020. https://doi.org/10.1111/dme.14450.
20. Elbalshy M, Boucher S, Galland B, Haszard JJ, Crocket H, Wiltshire E, Jefferies C, de Bock MI, Tomlinson P, Jones S, Wheeler BJ. The MiaoMiao study: Can do-it-yourself continuous glucose monitoring technology improve fear of hypoglycaemia in parents of children affected by type 1 diabetes?" J Diab Met Dis 2020. https://doi.org/10.1007/s40200-020-00671-5
21. Asarani NAM; Reynolds A; Elbalshy M; Burnside M; de Bock M; Lewis D; Wheeler BJ. Efficacy, safety, and user experience of DIY or open-source artificial pancreas systems: a systematic review. Acta Diabetologica 2020. https://doi.org/10.1007/s00592-020-01623-4.
22. Couper JJ, Jones TW, Chee M, Barrett HL, Bergman P, Cameron F, Craig ME, Colman P, Davis EE, Donaghue KC, Fegan G, Hamblin S, Holmes–Walker J, Jefferies C, Johnson S, Tuck Mok M, King BR, Sinnott R, Ward G, Wheeler BJ, Zimmermann A, Earnest A and the ADDN Study Group. Determinants of cardiovascular risk in 7,000 youth with type 1 diabetes in the Australasian Diabetes Data Network. JCEM 2020. https://doi.org/10.1210/clinem/dgaa727
23. Marsters BL; Boucher SE; Galland BC; Wiltshire E; de Bock MI; Tomlinson PA; Rayns J; MacKenzie KE; Chan H; Wheeler BJ. Cutaneous Adverse Events in a Randomized Controlled Trial of Flash Glucose Monitoring Among Youth with Type 1 Diabetes Mellitus. Ped Diabetes 2020. DOI: 10.1111/pedi.13121.
24. Pankhurst MW, de Katb AC, Jones SD, Broekmansb FJM, Wheeler BJ. Serum anti-Müllerian hormone levels in women are unstable in the postpartum period but return to normal within 5 months: a longitudinal study. Endocrine 2020. https://doi.org/10.1007/s12020-020-02491-2
25. Boucher SE; Gray A; Wiltshire E; de Bock MI; Galland BC; Tomlinson PA; Rayns J; MacKenzie KE; Chan H; Rose S; Wheeler BJ. Effect of 6 Months of Flash Glucose Monitoring in Youth With Type 1 Diabetes and High-Risk Control: A Randomized Controlled Trial. Diabetes Care 2020. https://doi.org/10.2337/dc20-0613.
26. Marsters BL; Boucher SE; Galland BC; de Lange M; Wiltshire EJ; de Bock MI; Elbalshy MM; Tomlinson PA; Rayns J; MacKenzie KE; Chan H; Wheeler BJ. The ‘Flash’ adhesive study: A randomized crossover trial using an additional adhesive patch to prolong Freestyle Libre sensor life among youth with Type 1 Diabetes Mellitus. Acta Diab2020.https://doi.org/10.1007/s00592-020-01556-y.
27. Burnside MJ, Lewis D, Crocket H, Wilson R, Williman J, Jefferies C, Paul R, Wheeler BJ, de Bock M. CREATE (Community deRivEd AutomaTEd insulin delivery) trialRandomised parallel arm open label clinical trial comparing automated insulin delivery using a mobile controller (AnyDANA-loop) with an open-source algorithm with sensor augmented pump therapy in type 1 diabetes. J DiabMetab Dis 2020. May 30:1–15.
28. Elbalshy M, Boucher S, Crocket H, Galland B, MacKenzie C, de Bock MI, Jefferies C, Wiltshire E, Wheeler BJ. Exploring parental experiences of using MiaoMiao for continuous glucose monitoring among children and adolescents with type 1 diabetes - A qualitative study. J Diab Sci Tech 2019. DOI:


X
  • Lap Ming Wong, Hong Kong
Affiliation
Tuen Mun Hosptial
Session
[Meet the Expert 6] Oct. 8, 2022 (Sat.) 08:00-09:45 - Speaker
Topic
Water Deprivation Test in Patients with Polyuria
Biography
Academic Qualification: MBBS(HK) 1990, MRCP(UK) 1996,
MRCPCH 1999, FHKCPaed 2000,
FHKAM( Paediatrics) 2000
Current Appointment: Consultant (Paediatrics and Adolescent
Medicine), Tuen Mun Hospital

Professional Experience:
Medical Officer ( July 1991 to June 1992, Castle Peak Hospital)
Medical Officer ( July 1992 to April 2007, Department of Paediatrics, Tuen Mun Hospital)
Associate Consultant ( April 2007 to January 2016, Department of Paediatrics Adolescent Medicine, Tuen Mun Hospital)
Consultant ( February 2016 to present, Department of Paediatrics Adolescent Medicine, Tuen Mun Hospital)

Research Fellow ( January to June 1999, London Centre for Paediatric Endocrinology) at The Middlesex Hospital and The Hospital for Sick Children at Great Ormond Street, London

Management experience:
(1) Doctor-in-charge of Paediatric Endocrine service in Tuen Mun Hospital since
1999.
(2) Doctor-in-charge of clinic for endocrine late effects of childhood malignancy
and blood disorders since 2001.
(3) Member of New Territories West Cluster Diabetic Service Committee since 2013
(4) Member of Working Group on Prevention of Iodine Deficiency Disorders, Department of Health (1-6-2021 to 31-5-2024)


Teaching experience:
(1) Clinical Assistant Professor (honorary) in Department of Paediatrics, CUHK 2013 to 2016.
(2) Clinical Assistant Professor (honorary) in Department of Paediatrics, HKU, 2013 to 2017
(3) Clinical Associate Professor (honorary) in Department of Paediatrics, CUHK from 2017, 2018, 2019, 2020, 2021, 2022
(4) Clinical Associate Professor (honorary) in Department of Paediatrics, HKU, from 2018, 2022-2023
(5) Journal Reviewer, Hong Kong Medical Journal, 2013,2014,2015
Journal Reviewer, Hong Kong Journal of Paediatrics, 2013
(6) Trainer for sub-specialty in Paediatric Endocrinology, Hong Kong College of Paediatricians, 2021, 2022,


Participating in Professional bodies:
Life Member, The Hong Kong Society of Paediatric Endocrinology and Metabolism
Secretary, Subspecialty Board in Paediatric Endocrinology, Hong Kong College of Paediatricians from May 2019 to April 2022


Publications:
(1) Epidemiology of Diabetes Mellitus in Children in Hong Kong: the Hong Kong Childhood Diabetes Registry
( Hong Kong Journal of Paediatrics 2000;13:297-302)

(2) A Baby Girl with Neonatal Thyrotoxicosis and subsequent Pituitary Hypothyroidism ( Hong Kong Journal of Paediatrics 2003;8:40-42)

(3) Childhood Thrombocytopenia Associated with Graves’ Disease is Distinct from Idiopathic Thrombocytopenic Purpura ( Pediatric Hematology and Oncology 2003;20:39-42)

(4) Thyroid Dysfunction in Chinese Children with Down Syndrome ( Hong Kong Journal of Paediatrics 2004;9:114-117)

(5) A Thirteen-year-old Boy with ‘Idiopathic’ Central Diabetes Insipidus ( Hong Kong Journal of Paediatrics 2004;9:240-242)

(6) Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatremia ( Journal of Inherited Metabolic Disease 2005;28:1159-1161)

(7) An Update of the Epidemiology of Childhood Diabetes in Hong Kong.
( Hong Kong Journal of Paediatrics 2009;14:252-259)


(8) Retrospective Study of Klinefelter Syndrome in Chinese Boys ( Hong Kong Journal of Paediatrics 2010;15:111-115)

(9) A Normal Baby Girl Born to a Chinese Woman with Classical Congenital Adrenal Hyperplasia ( Hong Kong Journal of Paediatrics 2010;15:230-233)

(10) A 12-year-old Chinese girl with Cushing syndrome and virilization due to adrenocortical carcinoma ( Journal of Pediatric Endocrinology and Metabolism 2011;24(3-4):193-196)

(11) Water deprivation test in children with polyuria ( Journal of Pediatric Endocrinology and Metabolism 2012;25(9-10):869-874)

(12) Ovarian sex cord stromal tumor with annular tubules in a 7-year-old child: A case report. Gynecologic Oncology Reports 30(2019) 100509

(13) Newborn Screening Pitfalls: A Missed Case of Salt-losing Type of Congenital Adrenal Hyperplasia ( Hong Kong Journal of Paediatrics 2020;25:49-52)

(14) Usage of Continuous Glucose Monitoring System in Paediatric Patients with Type 1 Diabetes in Hong Kong. ( Hong Kong Journal of Paediatrics 2022;27:145-151)



Oral or Poster Presentations or invited lectures in Professional Meetings:
(1) Lecture entitled "Diabetes insipidus, Diabetic ketoacidosis, Syndrome of inappropriate anti-diuretic hormone secretion" on 17-2-1998 in Paediatric Critical Care Nursing Course in Tuen Mun Hospital.

(2) Poster presentation entitled" A 2.5-year-old girl with recurrent convulsion and adrenal calcification" in 1998 in The Hong Kong Paediatric Society Scientific Meeting.

(3) Lecture entitled" A girl with short stature and ectopic neurohypophysis" on 9-3-2000 in clinical meeting of The Hong Kong Society of Paediatric Endocrinology and Metabolism

(4) Lecture entitle "Incidence of Thyroid Dysfunction in Chinese Down Syndrome Children" on 24-5-2001 in clinical meeting of The Hong Kong Society of Paediatric Endocrinology and Metabolism.

(5) Lecture entitled “ Assessment & management of altered fluid & electrolyte status” on 7-10-2003 in Post-registration Certificate Course in Child Health Nursing organized by Institute of Advanced Nursing Studies of Hospital Authority.

(6) Lecture entitled “ Endocrine Complication in Thalassaemia Major: Growth and Puberty” on 15-7-2004 in Clinical Meeting of The Hong Kong Society of Paediatric Endocrinology and Metabolism.

(7) Poster Presentation entitled “ A Boy with Central Diabetes Insipidus and Thickened Pituitary Stalk” on 24-7-2004 in the 5th Guangdong-Hong Kong Paediatric Exchange Meeting.

(8) Lecture entitled “ Patients with Hyperprolactinemia” on 21-9-2006 in Clinical Meeting of The Hong Kong Society of Paediatric Endocrinology and Metabolism.

(9) Poster Presentation entitled “ The Growth and Biochemical Change in an Adult Patient with Untreated Congenital Hypothyroidism” on 16-12-2006 in the 4th International Huaxia Congress of Endocrinology.

(10) Poster Presentation entitled “ An Adolescent Girl with Delayed Puberty Owing to Macroprolactinoma” on 16-12-2006 in the 4th International Huaxia Congress of Endocrinology.

(11) Poster Presentation entitled “ A 12-year-old Girl with Virilisation and Right Ovarian Mass” on 16-12-2006 in the 4th International Huaxia Congress of Endocrinology.

(12) Poster Presentation entitled “ A New Paradigm for the Transition of Paediatric b Patients with Diabetes Mellitus to the Adult Clinic” on 10-5-2010 in the 2010 Hospital Authority Convention


(13) Lecture entitled “ Water Deprivation Test in Children” on 1-12-2011 in Clinical Meeting of The Hong Kong Society of Paediatric Endocrinology and Metabolism.


(14) Chairperson & Speaker on New Territories West Cluster Grand Round “ Are
we boys or girls?” on 13-1-2012

(15) Lecture entitled “ Management of Children and Adolescent with Newly Diagnosed Type 1 Diabetes Mellitus” on 23- 9-2017 in T1DM Summit of The Hong Kong Society of Paediatric Endocrinology and Metabolism.

(16) Public talk on common thyroid problems in paediatric patients in RTHK serieson 10-10-2017

(17) Diabetes in Children and Adolescence , Institute of Advanced Nursing Studies Hospital Authority, 16-10-2018

(18) Diabetes in Children and Adolescence , Institute of Advanced Nursing Studies Hospital Authority, 22-12-2020


X
  • Nalini Shah, India
Affiliation
King Edward Memorial (KEM) Hospital, Mumbai
Session
[Meet the Expert 2] Oct. 6, 2022 (Thu.) 17:15-18:00 - Speaker
Topic
Cushing Syndrome
Biography
Prof. Nalini Shah MD, DM (Endocrinology)

Currently Professor, Department of Endocrinology, King Edward Memorial (KEM) Hospital, Mumbai
Dr. Nalini Shah is Professor Emeritus, Department of Endocrinology at KEM Hospital, Mumbai
An academician to the core, she has always been a merit holder with several “first” and gold medals to her credit.
She has received training in Paediatric Endocrinology in London Centre for Pediatric Endocrinology. 

Known for her astute clinical judgment and her keen interest in training her post graduates specializing in endocrinology

Known nationally and internationally for the vast clinical experience. She has 220 publications in various international journals

Has held several positions of responsibility, including president of Indian Society for Pediatric and Adolescent Endocrinology


X
  • Nicholas Ng, Singapore
Affiliation
Khoo Teck Puat – National University Children’s Medical Institute (KTP-NUCMI), National University Hospital, Singapore
Session
[Meet the Expert 2] Oct. 6, 2022 (Thu.) 17:15-18:00 - Speaker
Topic
Management of Prader-Willi Syndrome
Biography
Dr Nicholas Beng Hui NG
Consultant
KTP-NUCMI National University Hospital, Singapore

Dr Nicholas Ng is a consultant in the Division of Endocrinology at the Khoo Teck Puat – National University Children’s Medical Institute (KTP-NUCMI) at the National University Hospital of Singapore. He manages all general paediatric endocrine conditions including diabetes. He graduated from Imperial College London with 1st class honours for his Bachelor of Science degree and was subsequently awarded the MBBS Gold Medal (proxime accesit) alongside 8 other University Awards for academic excellence. He subsequently underwent paediatric residency training at the Department of Paediatrics, KTP-NUCMI, where he received his Masters of Medicine (Paediatrics), Membership of the Royal College of Paediatrics and Child Health (MRCPCH) and Specialist Accreditation in Paediatric Medicine.

Dr Ng's clinical and research interests are in paediatric endocrinology, particularly in the areas of childhood obesity, metabolic syndrome and developmental origins of metabolic diseases. He is an investigator in the Singapore Growing Up in Singapore Towards Healthier Outcomes (GUSTO) cohort study. He has authored multiple publications in international peer reviewed journals. He has won multiple grants and research scholarships for his research work, including the NUHS-Clinician Scientist Programme-Residency (NCSP-R) 2017 grant, the KTP-NUCMI research grants (2017 and 2018), The Exxon-Mobil NUS Research Fellowship (2021), and the National Medical Research council (NMRC) research training fellowship grant (2022). He has presented his work in various local and international conferences. He won the Best Oral Presentation in the NCSP-R presentation in 2017, Best Oral Presentation Award in the Singapore Paediatric and Perinatal Annual Conference in 2018, and the Excellence Award for the NUH Research Residency Programme Research Showcase in 2019. He also had the privilege of presenting his research work in the Kaichi Kida Session at the 11th Asia Pacific Paediatric Endocrinology Society (APPES) Bienniel Scientific Meeting in 2021.

Dr Ng is a passionate educator who is involved in undergraduate, post-graduate and interprofessional education. In recognition of his commitment to medical education, he has won numerous awards, including the NUS Dean’s Teaching Excellent Award (2018), NUHS Young Clinician Mentor Award (2018, 2019), NUS MedSoc Outstanding Tutor Award (2017, 2019), Dean’s Special Recognition Award (2019, 2021), Postgraduate Education Award (2016-2021) and Resident’s Choice Teaching Award (2021).


X
  • Anju Seth, India
Session
[Plenary 4: Bone] Oct. 8, 2022 (Sat.) 08:45-09:30 - Chairperson
Biography
Qualifications: MD (pediatrics)

Designation: Director Professor & Head, Department of Pediatrics Lady Hardinge Medical College, New Delhi

Papers Published: 150 papers/articles in peer reviewed journals
Total citations 1943
H index 19 (excluding self citations)

Additional Positions
- In-charge Div. of Pediatric Endocrinology, Dept. of Pediatrics, LHMC
- Program Director, Pediatric Center of Excellence in HIV, LHMC
- Chair, causality assessment sub-committee of the National AEFI Committee
- Chair, Technical Resource Group on pediatric HIV infection of NACO, MOHFW, India
- Past Secretary and Past President, Indian Society of Pediatrics & Adolescent Endocrinology

Areas of interest:
Disorders of vitamin D & calcium metabolism, growth & thyroid disorders, endocrine issues in thalassemia, pediatric HIV, HIV exposed infants


X
  • Byung-Kyu Suh, South Korea
Affiliation
Catholic University of Korea, College of Medicine
Session
[Symposium 4: Bone and Calcium] Oct. 7, 2022 (Fri.) 10:15-11:45 - Chairperson


X
  • Chan Jong Kim, South Korea
Session
[Meet the Expert 5] Oct. 8, 2022 (Sat.) 08:00-09:45 - Chairperson
Topic
Interpretation of Thyroid Function Tests
Biography
Education

1991: M.D., Chonnam National University College of Medicine, Gwangju, South Korea
2000: Ph.D., Chonnam National University Postgraduate School, Gwangju, South Korea


Postgraduate Training

Mar. 1991 - Feb. 1992 - Internship
:Chonnam National University Hospital, Gwangju, South Korea
May 1995 - Feb. 1999 - Residency
:Department of Pediatrics
Chonnam National University Hospital, Gwangju, South Korea
Mar. 1999 – Feb. 2000 - Fellowship
:Division of Pediatric Endocrinology
Department of Pediatrics
Chonnam National University Hospital, Gwangju, South Korea
Feb. 2005 – July. 2006 - Post-Doctoral Scholar
:Division of Pediatric Endocrinology
Department of Pediatrics
University of California, San Francisco, USA


Positions Held & Faculty Appointment

Feb. 2003 – Mar. 2007 - Assistant Professor
:Department of Pediatrics
Chonnam National University Medical School
Gwangju, South Korea
April. 2007– Mar. 2012 - Associate Professor
:Department of Pediatrics
Chonnam National University Medical School
Gwangju, South Korea
April. 2012– present - Professor
:Department of Pediatrics
Chonnam National University Medical School
Gwangju, South Korea


Licensure and Certification

Licensed to Practice Medicine in Korea, 1991
Korean Board of Pediatrics, 1999


Professional Society and Committee Activities

Korean Medical Association - Member (1991)
Korean Pediatric Society - Member (1999)
Korean Society of Pediatric Endocrinology - Member (2000)


Award

Ira M. Rosenthal Memorial Award, 88th Annual Meeting of The Endocrine Society June 24-27, 2006 (Boston, MA)


X
  • Choong Ho Shin, South Korea
Affiliation
Seoul National University, College of Medicine
Session
[Symposium 6: Thyroid] Oct. 7, 2022 (Fri.) 14:30-16:00 - Chairperson


X
  • Eun Young Kim, South Korea
Affiliation
Chosun University Hospital
Session
[Meet the Expert 6] Oct. 8, 2022 (Sat.) 08:00-09:45 - Chairperson
Topic
Water Deprivation Test in Patients with Polyuria
Biography
Education

1991: M.D., Chosun University College of Medicine, Gwangju, South Korea
2000: Ph.D., Chosun University Postgraduate School, Gwangju, South Korea


Postgraduate Training

Mar. 1991 - Feb. 1992 - Internship
: Chosun University Hospital, Gwangju, South Korea
Mar 1994 - Feb. 1998 - Residency
: Department of Pediatrics, Chosun University Hospital, Gwangju, South Korea
Feb. 2007 – July. 2008 - Post-Doctoral research fellow
: Joslin Diabetes Center, Boston, USA


Positions Held & Faculty Appointment

Mar. 2001 – Mar. 2003 – Full-time instructor
: Department of Pediatrics, Chosun University Medical School, Gwangju, South Korea
Apr. 2003– Mar. 2007 - Assistant Professor
: Department of Pediatrics, Chosun University Medical School, Gwangju, South Korea
Apr. 2007– Mar. 2012 – Associate Professor
: Department of Pediatrics, Chosun University Medical School, Gwangju, South Korea
Apr. 2012– present – Professor
: Department of Pediatrics, Chosun University Medical School, Gwangju, South Korea


Licensure and Certification

Licensed to Practice Medicine in Korea (since 1991)
Korean Board of Pediatrics (since 1991)
Korean Board of Pediatric Endocrinology (since 2008)


Professional Society and Committee Activities

Korean Medical Association - Member
Korean Pediatric Society - Member
Korean Society of Pediatric Endocrinology - Member
Asia Pacific Pediatric Endocrine Society (APPES) -Member


X
  • Fauzia Mohsin, Bangladesh
Affiliation
BIRDEM General Hospital
Session
[Symposium 8: Neonatal Endocrinology] Oct. 8, 2022 (Sat.) 14:15-15:45 - Chairperson
Biography
Dr.Fauzia Mohsin is working as Professor and Head in Paediatric Endocrinology and Metabolism Unit, department of Paediatrics, Bangladesh Institute of Research and Rehabilitation in Diabetes, Endocrine and Metabolic Disorders (BIRDEM) and Ibrahim Medical College in Dhaka, Bangladesh. She is the founding and current Secretary General of Paediatric Endocrine Society of Bangladesh (PESB). She is council member of Asia Pacific Paediatric Endocrine Society (APPES) for 2021-2022 and was council member of APPES for 2019-2020.

Dr. Mohsin obtained her MBBS degree from Chittagong Medical College in 1991. She did post graduation (FCPS) in Paediatrics in 2000 and clinical fellowship in Paediatric Endocrinology and Diabetes in “The Children’s Hospital at Westmead” at Sydney, Australia from 2003 to 2005. She has completed Certificate Course on Medical Education (Cmed), from BIRDEM Academy in 2019.

She received “young Investigator’s award” at ISPAD annual meeting in 2004 in Singapore and award for best poster presentation at 6th National conference of BNF in Dhaka. Dr. Mohsin has forty-eight publications in peer reviewed international and national journals. She has co-authored in chapters in books in “Epidemiology of Pediatric and Adolescent Diabetes”, “Shakur’s Illastrated Textbook of Paediatrics”, contributed in “Pediatric Practice on parents’ Presentation”. She is the member of the International Advisory Board of Journal of Pediatric Endocrinology and Diabetes (JPED).


X
  • Heon-Seok Han, South Korea
Affiliation
Chungbuk National University, College of Medicine
Session
[Symposium 3: Adrenal/DSD] Oct. 6, 2022 (Thu.) 15:45-17:15 - Chiarperson
Biography
EDUCATION

1977-1983 : Bachelor’s degree & M.D., Seoul National University College of Medicine,
1983-1991 : Intern, Resident, Department of Pediatrics, and Clinical Fellow in Pediatric
Endocrinology, Seoul National University Hospital, Seoul, Korea
1986-1991 : MS & PhD in Pediatrics, Seoul National University Graduate School of Medicine,
1993-1993 : Research Scientist, Oregon Health Science University, Portland, Oregon, U.S.A.
1994-1995 : Postdoctoral Fellow, University of South Carolina, Charleston, South Carolina, USA


POSITIONS HELD & FACULTY APPOINTMENT

1991- present : Professor, Chungbuk National University College of Medicine
2001-2003 : Chairman, Department of Pediatrics, Chungbuk National University Hospital
2011-2013 : Director, Research Institute of Clinical Medicine, CBNUH
2011-2013 : President, Korean Society of Pediatric Endocrinology
2018-2021 : President & CEO, Chungbuk National University Hospital


X
  • Ho-Seong Kim, South Korea
Affiliation
Yonsei University, College of Medicine
Session
[Plenary 1: Growth] Oct. 6, 2022 (Thu.) 09:00-09:45 - Chairperson


X
  • Huynh Thi Vu Quynh, Vietnam
Affiliation
Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh city
Session
[Symposium 7: Nutrition, Obesity & Type 2 DM] Oct. 8, 2022 (Sat.) 11:45-13:15 - Chairperson
Biography
1. CURRENT EMPLOYMENTS
Head of Nephrology and Endocrinology Department, Children’s hospital 2
Vice head of Pediatric Department, University of Medicine and Pharmacy at Ho Chi Minh City, Vietnam
Head of Quality Assurance Office - Medicine Facullty , University of Medicine and Pharmacy at Ho Chi Minh City, Vietnam
Council member of Asia Pacific Pediatric Endocrinology Society
2. ACADEMIC EDUCATION
2014-2017 PhD of Pediatric, University of Medicine and Pharmacy -Ho Chi Minh City, Vietnam
Research Thesis: The diagnostic value of aGnRH stimulation test in central precocious puberty.
2010-2012 Master of Pediatric, University of Medicine and Pharmacy -Ho Chi Minh City, Vietnam
Research Thesis: “Target organ damage in Hypertension of Children in Children’s hospital 2”
Graduated with honors
2005 -2008 Residency, (Pediatrics), University of Medicine and Pharmacy –Ho Chi Minh City, Vietnam
Research Thesis: “Characteristics of Hypertention of Children in Children’s Hospital 2 from 2007 to 2008”
Graduated with honors
1998 -2004 Medical Doctor, University of Medicine and Pharmacy -Ho Chi Minh City, Vietnam
Graduated with top 1/300

3. CLINICAL APPOINTMENTS
8/ 2020-date: Head of Nephrology and Endocrinology Department, Children’s hospital 2
2019-date: Vice head of Pediatrics Department, Facullty of Medicine , University of Medicine
and Pharmacy - Ho Chi Minh City, Vietnam
2018-date: Head of Educational Quality Assurance Office- Facuty of Medicine, University of
Medicine and Pharmacy at Ho Chi Minh City, Vietnam
2014-date Member of Educational Quality Assurance Office- Facuty of Medicine, University of
Medicine and Pharmacy at Ho Chi Minh City, Vietnam
2008-date Lecturer, clinical instructor, Department of Pediatrics, University of Medicine and
Pharmacy at Ho Chi Minh City, Vietnam
Department of Nephrology and Endocrinology, Children’s hospital 2
2006-2007 Resident, Pediatrics , Children’s Hospital 2, under the co-supervision of Department
of Pediatrics, University of Medicine and Pharmacy -Ho Chi Minh City
2005-2006 Intern, Pediatrics, Children’s Hospital 1, under the co-supervision of Department
of Pediatrics, University of Medicine and Pharmacy -Ho Chi Minh City, Vietnam


4. COURSES & CONFERENCES
11/2019: APPES scientific meeting, Changmai, Thailand
9/2019: ESPE conference, Athens, Greece
6/2018: Asian University Network - Quality Assurance tier 1,2, Thailand
1/2018 Quality Assurance and Accreditation training course, National University of HCMC, Vietnam
9/2017 International pediatric endocrinology conference, Washington, USA
9/2014 Growth hormone disorder academy, Zurich, Switzerland
8/2014 Epidemiological Research Training Course, , University of Medicine and
Pharmacy HCMC and Fukushima Medical University, Japan
2/2014 Research ethics and good clinical practice course, Children’s hospital 2, Vietnam
7-9/2012 Clinical obsever, Children’s Hospital of Westmead, Australia
AuSAID Australian Leadership Fellowships, Hoc Mai Foundation, Australia
12-14/7/2012 CME ISPAD, Ho Chi Minh city
15-19/8/ 2011 Epidemiological Research Training Course, , University of Medicine and
Pharmacy at HCMC and Fukushima Medical University, Japan
11/2011 APPES Fellow school and CME 2011, Ha Noi, Vietnam
Sixth APPES scientific meeting 2010, Xian, China
11/2010 APPES Fellow school 2010, Xian, China
04/2010 “Pediatric Advanced Life Support Instructor Course” University of Medicine and Pharmacy at HCMC and VinaCapital Foundation.
03/2010 Academic teacher training course, Munich, Germany
01/2010 “Evidence-Based Medicine”, Pham Ngoc Thach University of Medicine, Viet Nam
11/2009 “Post graduate pediatric update and professional seminar 2009” Project Vietnam Foundation, USA and University of Medicine and Pharmacy of Ho Chi Minh City, Vietnam
08/2009 “Genetics course” University of Medicine and Pharmacy of HCMC, Vietnam
03/2009 “Disasters Training Course” Project Vietnam Foundation, USA and University of Medicine and Pharmacy of HCMC, Vietnam
11/2008 “APP Neonatal Resuscitation Program Instructor Training Course”
International Relief Teams and Project Vietnam Foundation, USA
08/2008 “Teaching based on EBM and PBL” University of Medicine and Pharmacy of Ho Chi Minh city, Vietnam
11/2006 “Statistics in Medicine”. University of Medicine and Pharmacy of Ho Chi Minh City, Vietnam
10/2006 “Research methods in Medicine”, University of Medicine and Pharmacy of Ho Chi Minh, Vietnam

5. RESEARCH INTERESTS

Pediatric Endocrinology
• Precocious Puberty
• Congenital hypothyroid
• Hyperthyroid
• Diabetes
• Congenital adrenal hyperplasia
Pediatric Nephrology
• SLE
• Nephrotic syndrome
• Kidney transplantation
Medical Education
Educational Quality assurance

6. CLINICAL INTERESTS
Pediatric Endocrinology
Pediatric Nephrology
8. FOREIGN LANGUAGE. English
9. Published articles:
1. Quynh TV Huynh, Lan TT Nguyen (2009), “The characteristic of Hypertension in Children at Children’s hospital 2” Ho Chi Minh city Journal of Medicine, 13 (1), pp.121-127.
2. Quynh TV Huynh, et al (2013), “The characteristic of complications in diabetes children at Children’s hospital 2”, Ho Chi Minh city Journal of Medicine,17(1), pp.302-306.
3. Quynh TV Huynh, Uyen NN Tran (2014). “The characteristic UTI of children under 3 months”, Ho Chi Minh city Journal of Medicine, 18 (1), pp. 464-468.
4. Quynh TV Huynh , Thu Pham (2014), “Using high dose of Synacthen in diagnose adrenal insufficiency in Cushing syndrome induced by external corticosteroid”, Ho Chi Minh city Journal of Medicine,18 (3) , pp. 231-236.
5. Quynh TV Huynh (2014), “Precocious Puberty” Ho Chi Minh city Journal of Medicine, 14 (1), pp.60 – 63.
6. Quynh TV Huynh, Đat Đinh (2016), “The characteristic of congenital hypothyroidism”, Ho Chi Minh city Journal of Medicine.
7. Quynh TV Huynh, Van Le (2015), "The characteristic of CPP in children at CH2”, Ho Chi Minh city Journal of Medicine, 19, pp. 409-413.
8. Quynh TV Huynh, Van Le, Thu Pham (2017), "The level of basal LH and peak LH in CPP patients", Ho Chi Minh city Journal of Medicine, 21(1), pp. 321-326.
9. Quynh TV Huynh, An Pham, Hong Pham, Tru Vu (2017), “Causes of CPP”, Ho Chi Minh city Journal of Medicine, 21 (3), pp. 158-166.
10. Quynh TV Huynh, An Pham, Hong Pham, Tru Vu (2017), “The value of basal LH, FSH and LH/FSH in diagnose CPP”, Ho Chi Minh city Journal of Medicine, 21 (3), pp. 166-175.
11. Quynh TV Huynh, An Pham, Hong Pham, Tru Vu (2017). “The characteristic of clinical, subclinical of CPP from 2010-2016 in CH2”, Ho Chi Minh city Journal of Medicine, 21 (6), pp. 267-275
12. Quynh TV Huynh, An Pham, Hong Pham, Tru Vu (2017), “The value of peak LH, FSH and LH/FSH after stimulating by aGnRH in diagnose CPP”, Ho Chi Minh city Journal of Medicine, 21 (6), pp. 275-285
13. Quynh TV Huynh, An Pham, Hong Pham, Tru Vu (2017). “The best time to take sample for aGnRH stimulation test in diagnose CPP”, Ho Chi Minh city Journal of Medicine, 21 (6), p. 285
14. Quynh TV Huynh, Luan Nguyen, Vy Vo (2018). “Effective of treatment CPP by aGnRH after 1 year”, Ho Chi Minh city Journal of Medicine, 22 (1), p. 336-346.
15. Tin TM Luong, Quynh TV Huynh, Tru Huy Vu (2019). “Acute complications in children with type 1 diabetes mellitus in the children hospital 2 from december 2017 to may 2018”, Ho Chi Minh city Journal of Medicine, 22 (1):p.61-66
16. Tin TM Luong, Quynh TV Huynh, Tru Huy Vu (2019). “Chronic complications in children with type 1 diabetes mellitus in the children hospital 2 from december 2017 to may 2018”, Ho Chi Minh city Journal of Medicine, 22 (1):p.66-71
17. Phương TM Ngô, Quynh TV Huynh (2020). “characteristics of epidemiology, causes, clinical signs, laboratory findings and treatment of pediatric hyperthyroidism at childrens hospital 2 from april 2014 to april 2019”, Ho Chi Minh city Journal of Medicine , 20(1): 64-69
18. Diep Duong, Hoa Giang, Quynh TV Huynh, et al(2020), “ APPLY NEXT GENERATION SEQUENSING (NGS) ON MUTATION DETECTION
OF GENE INS AND KCNJ11 IN NEONATAL DIABETES MELLITUS (NDM) PATIENTS”, Ho Chi Minh city Journal of Medicine, 24 (1) p.153
19. Minh Cong Duong , Quynh TV Huynh, Vinh Quang Bui(2021), “ Assessment of nutritional characteristics of children with diabetes mellitus in Children Hospital 2”, Ho Chi Minh city Journal of Medicine, 25(2), p111
20. Ngan Nguyen, Quynh TV Quỳnh (2021). “Characteristics of endocrine disorders before and after surgery”, Ho Chi Minh city Journal of Medicine, 25 (3), p.67
21. Quynh TV Quynh, Khang Kim Doan, “Epidemiological, clinical, subclinical and treatment characteristics in type 2 diabetic patient at Children's Hospital 2 from March 2015 to March 2020”, Ho Chi Minh city Journal of Medicine, 25 (3), p.87
22. Ngan Nguyen, Can Đang, Quynh TV Quỳnh (2021). “Characteristics of epidemiological, clinical, subclinical and treatment of tumors and complication post-surgery of patients with sellar and parasellar tumors”, Ho Chi Minh city Journal of Medicine, 25 (3), p.134
23. Tin Luong, Quynh TV Huynh (2022), “Acute and chronic complications in diabetic children in Children’s hospital 2”, Ho Chi Minh city Journal of Medicine, 16 (1), p.269
24. Huỳnh Thị Chi Lan, Quynh TV Huynh (2022), “Characteristics of epidemiology, causes, clinical signs, laboratory findings of patients with CPP who finished GnRH agonist treatment at Children’s Hospital 2”, Ho Chi Minh city Journal of Medicine, 16, (1), p.274
25. Minh Trinh, Quynh TV Huynh (2022), “Autoantibodies to ICA and GADA in children with diabetes mellitus type 1 at Children’s hospital 2”, Ho Chi Minh city Journal of Medicine, 16 (1), p.346
26. Quynh TV Huynh, Minh Trinh (2022), “The epidemiological, clinical, subclinical characteristics of children with diabetes mellitus type 1 at Children’s hospital 2”, Ho Chi Minh city Journal of Medicine, 16 (1), p.341
27. Quynh TV Huynh, HTD Thuy, Kate Armstrong, Maria Craig, (2013), “Effectiveness of diabetes and congenital adrenal hyperplasia meeting clubs”, International Journal of Pediatric Endocrinology 2013(Suppl 1): pp.134.
28. Irene Mitchelhill, Kate Armstrong, Maria Craig, Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Thi Bich Ngoc, Thuy Thi Diem Hoang, Huynh Quynh, Dong Trieu Phuong Tran, Pham Ngoc Trach, Huynh Thoai Loan, Nguyen Phuong Khanh, Tran Thi Bich Huyen, Aman Pulungan and Frida Soesanti (2015), “Evaluation of parental knowledge after establishing CAH clubs in Vietnam & Indonesia” International Journal of Pediatric Endocrinology 2015(Suppl 1): pp.53
29. Dao AT, Luong VT, Nguyen TT, Huynh QT, Phan TT, Lam MT, Ngoma AM, Koriyama C. (2014), “Risk factors for early fatal outcomes among children with hemophagocytic lymphohistiocytosis (HLH): a single-institution case-series in Vietnam”, Pediatr Hematol Oncol. 31(3), pp. 271-278.
30. Ngan Thi Kim Nguyen , Hsien-Yu Fan , Meng-Che Tsai , Te-Hsuan Tung , Quynh Thi Vu Huynh , Shih-Yi Huang and Yang Ching Chen (2020), “Nutrient Intake through Childhood and Early Menarche Onset in Girls:
Systematic Review and Meta-Analysis”, Nutrients, pp. 2-19
31. Huynh QTV, Le NQK, Huang SY, Ho BT, Vu TH, Pham HTM, Pham AL, Hou JW, Nguyen NTK, Chen YC. “Development and Validation of Clinical Diagnostic Model for Girls with Central Precocious Puberty: Machine-learning Approaches”, PLOS One 2022, Jan 21; 17 (1)
32. Quynh Thi Vu Huynh , Ban Tran Ho , Nguyen Quoc Khanh Le , Tung Huu Trinh , Luu Ho Thanh Lam , Ngan Thi Kim Nguyen , Shih-Yi Huang, “Pathological brain lesions in girls with central precocious puberty at initial diagnosis in Southern Vietnam”, Ann Pediatr Endocrinol Metab 2022 May 16


X
  • Il Tae Hwang, South Korea
Affiliation
Kangdong Sacred Heart Hospital, Hallym University
Session
[Symposium 7: Nutrition, Obesity & Type 2 DM] Oct. 8, 2022 (Sat.) 11:45-13:15 - Chairperson


X
  • Jeerunda Santiprabhob, Thailand
Affiliation
Faculty of Medicine Siriraj Hospital, Mahidol University
Session
[Symposium 2: Puberty] Oct. 6, 2022 (Thu.) 15:45-17:15_ [Kaichi Kida Oral Session] Oct. 6, 2022 (Thu.) 10:00-11:30 - Chairperson
Biography
Educational background & professional experience

2008-Present Associate Professor
2005-2008 Assistant Professor
2002-2005 Lecturer, Division of Endocrinology and Metabolism, Department of
Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University
1999-2002 Clinical Fellow, Division of Pediatric Endocrinology, Cincinnati
Children's Hospital Medical Center, Cincinnati, Ohio, USA
1996-1999 Pediatric Residency, University of Illinois at Chicago, Chicago,
Illinois, USA
1995-1996 Pediatric Residency, Faculty of Medicine Siriraj Hospital, Mahidol
University, Bangkok, Thailand
1994-1995 Internship, Chandrarubeksa Hospital, Royal Thai Air Force,
Nakorn-Pathom, Thailand
1988-1994 Doctor of Medicine, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok, Thailand


Medical Licensure

American Board of Pediatrics
American Sub-Board of Pediatric Endocrinology
Medical License of Thailand


Administrative Appointment

2016-Present: Council (2016-2020), Co-opt (2020-Present),
Scientific and Educational Commitee
Asia Pacific Pediatric Endocrine Society (APPES)
2012-Present: Vice Chairman
Siriraj Diabetes Center, Faculty of Medicine Siriraj Hospital,
Mahidol University
2016-Present: Foreign Relation & Social Affair,
Thai Society for Pediatric Endocrinology (TSPE)
2016-2018: Secretariat of Local Committee
Asia Pacific Pediatric Endocrine Society (APPES)
Meeting 2018 in Chiang Mai
2008-2016 : Secretariat
Thai Society for Pediatric Endocrinology (TSPE)


Professional Societies

The Endocrine Society of Thailand
The Royal College of Pediatricians of Thailand & Paediatric Society of Thailand International Society of Pediatric and Adolescent Diabetes (ISPAD)
Asia Pacific Pediatric Endocrine Society (APPES) The Endocrine Society
The European Society for Pediatric Endocrinology (ESPE)


Research Interests

Childhood and adolescent diabetes
Childhood and adolescent obesity
Disorder of sex development


Ongoing Research

1. Pediatric diabetes registry based on SWEET-PROJECT and psychosocial evaluation of adolescents with diabetes (Primary investigator)
2. Genetic causes of patients with disorder of sex development (Co-Investigator)
Funding - Siriraj Research Development Fund (Grant no. R016034014)
3. Pediatric and adolescent diabetes project: registry, genetics/ immunological factors and bone mineral density.
Funding - Siriraj Research Development Fund (Grant no. R015934009)
Sub protocol 1: Pediatric diabetes registry and a study on etiology, glycemic control and complication in children and adolescent with diabetes (Principle Investigator)
Sub protocol 2: Bone mineral density in children and adolescents with T1DM: relationship with glycemic control, vitamin D level, and polymorphisms of vitamin D- related gene (Principle Investigator)
Sub protocol 3: Association study of HLA loci in Type 1 diabetes (Co-Investigator)
Sub protocol 4: Role of inflammatory cytokines in Type 1 diabetes (Co-Investigator)
Sub protocol 5: Applications of next generation sequencing (NGS)technologies in molecular genetics study in people with diabetes aged 0-18 year (Co-Investigator)
4. Family –based studies of obesity-related genetic polymorphisms in Thais (Co-Investigator)
Funding –The National Research Council of Thailand


Honors& Awards

.1. The R2R Award 2018 : research title “Metabolic disorders in HIV-infected adolescents receiving protease inhibitors”, at Quality Fair 2018 “SMART Organization for Sustainability”, Faculty of Medicine Siriraj Hospital, Mahidol University
2. The Award of Excellence for Poster Presentation: research title “Vitamin D status among obese children and adolescent and effect of weight loss” at Siriraj International Conference in Medicine and Public Health (SICMPH 2014)
3. The Award of Excellence for Clinical Research 2014: research title “Outcome of group-based treatment program with parental involvement for the management of childhood and adolescent obesity”, Faculty of Medicine Siriraj Hospital, Mahidol University


Publications

1. Dejkhamron P, Santiprabhob J, Likitmaskul S, Deerochanawong C, Rawdaree P, Tharavanij T, Reutrakul S, Kongkanka C, Suprasongsin C, Numbenjapon N, Sahakitrungruang T, Lertwattanarak R, Engkakul P, Sriwijitkamol A, Korwutthikulrangsri M, Leelawattana R, Phimphilai M, Potisat S, Khananuraksa P, Kunsuikmengrai K, Nitiyanant W; Thai Type 1 Diabetes and Diabetes diagnosed Age before 30 years Registry, Care and Network (T1DDAR CN). Young-onset diabetes patients in Thailand: Data from Thai Type 1 Diabetes and Diabetes diagnosed Age before 30 years Registry, Care and Network (T1DDAR CN). J Diabetes Investig. 2021 Dec 10. doi: 10.1111/jdi.13732. Epub ahead of print. PMID: 34890117.
2. Santiprabhob J, Charoentawornpanich P, Khemaprasit K, Manpayak T, Kiattisakthavee P, Pipatsathian A, Wannasilp N, Tangjittipokin W. Effect of gender, diabetes duration, inflammatory cytokines, and vitamin D level on bone mineral density among Thai children and adolescents with type 1 diabetes. Bone. 2021 Jul 10;153:116112. doi: 10.1016/j.bone.2021.116112. Epub ahead of print. PMID: 34252600.
3. Tangjittipokin W, Umjai P, Khemaprasit K, Charoentawornpanich P, Chanprasert C, Teerawattanapong N, Narkdontri T, Santiprabhob J. Vitamin D pathway gene polymorphisms, vitamin D level, and cytokines in children with type 1 diabetes. Gene.2021 Jul 30;791:145691. doi: 10.1016/j.gene.2021.145691.
4. Santiprabhob J, Chokephaibulkit K, Khantee P, Maleesatharn A, Phonrat B, Phongsamart W, Lapphra K, Wittawatmongkol O, Rungmaitree S, Tanchaweng S, Maturapat S, Lermankul W, Tungtrongchitr R. Adipocytokine dysregulation, abnormal glucose metabolism, and lipodystrophy in HIV-infected adolescents receiving protease inhibitors. Cytokine.2020 Dec;136:155145. doi: 10.1016/j.cyto.2020.155145.
5. Dejkhamron P, Santiprabhob J, Likitmaskul S, Deerochanawong C, Rawdaree P, Tharavanij T, Reutrakul S, Kongkanka C, Suprasongsin J, Numbenjapon N, Sahakitrungruang T, Lertwattanarak R Engkakul P, Sriwijitkamol A, Korwutthikulrangsri M, Leelawattana R, Phimphilai M, Potisat S, Khananuraksa P, Nopmaneejumruslers C, Nitiyanant W, Thai Type 1 Diabetes, Diabetes Diagnosed Before Age 30 Years Registry, Care, Network (T1DDAR CN). Type 1 Diabetes management and outcomes: a multicenter study in Thailand. J Diabetes Investig.2020 Aug 19.doi:10.1111/jdi. 13390.
6. Wannapaschaiyong P, Sumboonnanonda A, Santiprabhob J. Long-Term Outcomes of Group- Based Treatment for Obese Children and Adolescents. Siriraj Med J. 2020; 72 (2):132-9.
7. Santiprabhob J, Limprayoon K, Aanpreung P, Charoensakdi R, Kalpravidh RW, Phonrat B, Tungtrongchitr R. Impact of a group-based treatment program on adipocytokines, oxidativestatus, inflammatory cytokines and arterial stiffness in obese children and adolescents. J Pediatr Endocrinol Metab 2018;31(7):733-742.
8. Patjamontri S, Khemaprasit K, Santiprabhob J, Nakavachara P, Lertbannaphong O, Kiattisakthavee P, Likitmaskul S. The effect of early diabetes self-management education on glycemic control in children with type 1 diabetes. Southeast Asian J Trop Med Public Health 2018;49(2):304-13. 4
9. Sukharomana M, Ngam-ek-ua A, Weerakulwattana P, Patjamontri S, Nakavachara P, Likitmaskul S, Limwongse C, Ngerncham M, Rungtrakool R, Laohapensang M, Chuangsuwanich T, Santiprabhob J. Etiologies, sex assignment and treatment outcomes in patients with disorders of sex development. Southeast Asian J Trop Med Public Health 2017;48(2):120-32.
10. Santiprabhob J, Tanchaweng S, Maturapat S, Maleesatharn A, Lermankul W, Sricharoenchai S, et al. Metabolic Disorders in HIV-Infected Adolescents Receiving Protease Inhibitors. Biomed Res Int. 2017;2017:7481597. doi: 10.1155/2017/7481597. Epub 2017 Feb 15.
11. Kaewsutthi S, Santiprabhob J, Phonrat B, Tungtrongchitr A, Lertrit P, Tungtrongchitr R. Exome sequencing in Thai patients with familial obesity. Genet Mol Res 2016;15(2). doi: 10.4238/gmr.15028311.
12. Wannaiampikul S, Phonrat B, Tungtrongchitr A, Limwongse C, Chongviriyaphan N, Santiprabhob J, et al. Genetic variant screening of MC3R and MC4R genes in early-onset obese children and their relatives among a Thai population: family-based study.Genet Mol Res 2015;14:18090-102. doi: 10.4238/2015.
13. Kulanuwat S, Santiprabhob J, Phonrat B, Limwongse C, Tungtrongchitr A, Chongviriyaphan N, et al. Association between rs155971 in the PCSK1 gene and the lipid profileof obese Thai children: a family-based study. Genet Mol Res 2015;14:9136-44.
14. Chuenta W, Phonrat B, Tungtrongchitr A, Limwongse C, Chongviriyaphan N, Santiprabhob J,
et al. Common variations in the FTO gene and obesity in Thais: A family-based study. Gene 2015;558:75-81.
15. Santiprabhob J, Leewanun C, Limprayoon K, Kiattisakthavee P, Wongarn R, Aanpreung P, et al. Outcomes of group-based treatment program with parental involvement for the management of childhood and adolescent obesity. Patient Educ Couns2014;97:67-74.
16. Kulanuwat S, Phonrat B, Tungtrongchitr A, Limwongse C, Chongviriyaphan N, Tungtrongchitr R, Santiprabhob J, Effects of pcsk1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters. Southeast Asian J Trop Med Public Health 2014;45:214-25.
17. Santiprabhob J, Kiattisakthavee P, Likitmaskul S, Chaichanwattanakul K, Wekawanich J, Dumrongphol H, et al. Glycemic control, quality of life and self-care behavior among adolescents with type 1 diabetes who attended a diabetes camp. Southeast Asian J Trop Med Public Health 2012;43:172-84.
18. Numbenjapon N, Nakavachara P, Santiprabhob J, Kiattisakthavee P, Wongarn R, Likitmaskul S. Successful strategy to improve glucose tolerance in Thai obese youth. J Med Assoc Thai. 2010;93:S131-8.
19. Santiprabhob J, Likitmaskul S, Kiattisakthavee P, Weerakulwattana P, Chaichanwattanakul K, Nakavachara P, et al. Glycemic control and the psychosocial benefits gained by patients with type 1 diabetes mellitus attending the diabetes camp. Patient Educ Couns 2008;73:60-6.
20. Santiprabhob J, Weerakulwattana P, Nunloi S, Kiattisakthavee P, Wongarn R, Wekawanich J, et al. Etiology and glycemic control among Thai children and adolescents with diabetes mellitus. J Med Assoc Thai 2007;90:1608-15. 5
21. Karnsakul W, Sawathiparnich P, Nimkarn S, Likitmaskul S, Santiprabhob J, Aanpreung P. Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism. Ann Hepatol 2007;6:97-103.
22. Santiprabhob J, Update in management of childhood diabetes mellitus with hi- technology devices. Siriraj Med J 2006;58:763-65.
23. Santiprabhob J, Likitmaskul S, Sriwijitkamol A, Peerapatdit T, Sawathiparnich P, Nitiyanant W, et al. Improved glycemic control among Thaichildren and young adults with type 1
diabetes participating in the diabetes camp. J Med Assoc Thai 2005;88:38-43.
24. Likitmaskul S, Santiprabhob J, Sawathiparnich P, Numbenjapon N, Chaichanwatanakul K. Clinical pictures of type 2 diabetes in Thai children and adolescents is highly related to features of metabolic syndrome. J Med Assoc Thai 2005;88:S169-75.
25. Santiprabhob J, Likitmaskul S, Boonyasiri A, Boonsathorn S, Buddawong T. Etiologies of
central diabetes insipidus in Thai children. J Pediatr Endocrinol Metab 2005;18: 653-61.
26. Santiprabhob J, Browning J, Repaske D. A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 2002;77:112-8.


X
  • Jin Soon Hwang, South Korea
Affiliation
Ajou University, School of Medicine
Session
[Meet the Expert 1] Oct. 6, 2022 (Thu.) 17:15-18:00 - Chairperson
Topic
Diabetes Technology


X
  • Jung Sub Lim, South Korea
Affiliation
Korea Cancer Center Hospital
Session
[Symposium 8: Neonatal Endocrinology] Oct. 8, 2022 (Sat.) 14:15-15:45 -Chairperson
Biography
EDUCATION/TRAINING

1989
: College of Liberal Arts and Science, Seoul National University, Seoul, South Korea - Premedical Course (Life Sciences)
1993
:College of Medicine, Seoul National University, Seoul, South Korea - M.D (Medicine)
2006
:Postgraduate School, Seoul National University, Seoul, South Korea -Ph.D (Medicine)
2008
:University of California, San Francisco - Visiting Scholar (Obesity, Oncology related endocrinology)


Positions and Honors

List in chronological order previous positions, concluding with your present position. List any honors. Include present membership on any Federal Government public advisory committee.


Research and Professional Experience

:1993 – 1994 Rotating Internship, Seoul National University Hospital, Seoul, Korea
1994 – 1998 Residency in Pediatrics, Seoul National University Hospital, Seoul, Korea
2001 – 2003 Fellowship in Pediatric Endocrinology, Seoul National University Hospital, Seoul, Korea
2003 – pres. Staff in Department of Pediatrics, Korea Cancer Center Hospital, Seoul, Korea
1998 – pres. Member, the Korean Pediatric Society
2003 – pres. Member, the Korean Society of Pediatric Endocrinology
2007 - pres. Member, the Korean Society of Pediatric Obesity Panel
2008 – 2009 Visiting Scholar in University of California, San Francisco (UCSF), Division of Pediatric Endocrinology, Department of Pediatrics


Publications

For 10 years, Lim JS published 60 SCI(E) paper. His interest area is ‘Bone’ especially normal BMD and Cancer related low BMD(osteoporosis) and precocious puberty

1: Kang S, Kim YM, Lee JA, Kim DH, Lim JS. Early menarche is a risk factor of short stature in young Korean female: Epidemiologic study. J Clin Res Pediatr Endocrinol. 2019 Jan 3. doi: 10.4274/jcrpe.0274.
2: Yoon JS, So CH, Lee HS, Lim JS, Hwang JS. Prevalence of Pathological Brain Lesions in Girls with Central Precocious Puberty: Possible Overestimation? J Korean Med Sci. 2018 Nov 26;33(51):e329
3: Lee HS, Yoon JS, Park KJ, Lim JS, Hwang JS. The Relationship Between Bone Mineral Density and Type 2 Diabetes in Obese Children and Adolescents at the Time of Initial Diagnosis. Horm Metab Res. 2019 Jan;51(1):42-46.
4: Lee JA, Oh HL, Kim DH, Lim JS. Lymphocyte-monocyte ratio at day 14 of first cisplatin-doxorubicin chemotherapy is associated with treatment outcome of pediatric patients with localized osteosarcoma. Korean J Pediatr. 2018 Oct 1.
5: Roh JG, Yoon JS, Park KJ, Lim JS, Lee HS, Hwang JS. Evaluation of bone mineral status in prepuberal children with newly diagnosed type 1 diabetes. Ann Pediatr Endocrinol Metab. 2018 Sep;23(3):136-140.
6: Kang YK, Oh HL, Lim JS, Lee JA, Kim YK, Eun BW, Jo DS, Kim DH. Evaluation of the field-protective effectiveness of seasonal influenza vaccine among Korean children aged < 5 years during the 2014-2015 and 2015-2016 influenza seasons: a cohort study. Hum Vaccin Immunother. 2018 Sep 27:1-6.
7: Oh HL, Lee JA, Kim DH, Lim JS. Reference values for serum ferritin and percentage of transferrin saturation in Korean children and adolescents. Blood Res. 2018 Mar;53(1):18-24. doi: 10.5045/br.2018.53.1.18.
8: Yoon JS, So CH, Lee HS, Lim JS, Hwang JS. The prevalence of brain abnormalities in boys with central precocious puberty may be overestimated. PLoS One. 2018 Apr 3;13(4):e0195209.
9: Yi KH, Hwang JS, Lim SW, Lee JA, Kim DH, Lim JS. Early menarche is associated with non-alcoholic fatty liver disease in adulthood. Pediatr Int. 2017 Dec;59(12):1270-1275.
10: Kang EK, Eun BW, Kim NH, Kim YK, Lim JS, Kim DH. Hemagglutination inhibiting antibody persistence 1 year after influenza vaccination in Korean children and adolescents. Hum Vaccin Immunother. 2017 Apr 3;13(4):895-902
11: Choi A, Kang YK, Lim S, Kim DH, Lim JS, Lee JA. Severe Hepatic Sinusoidal Obstruction Syndrome in a Child Receiving Vincristine, Actinomycin-D, and Cyclophosphamide for Rhabdomyosarcoma: Successful Treatment with Defibrotide. Cancer Res Treat. 2016 Oct;48(4):1443-1447.
12: Kang EK, Eun BW, Kim NH, Lim JS, Lee JA, Kim DH. The priming effect of previous natural pandemic H1N1 infection on the immunogenicity to subsequent 2010-2011 influenza vaccination in children: a prospective cohort study. BMC Infect Dis. 2016 Aug 22;16(1):438.
13: Yi KH, Hwang JS, Lim SW, Lee JA, Kim DH, Lim JS. Ferritin level is associated with metabolic syndrome and elevated alanine aminotransferase in children and adolescents. J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1337-1344.
14: Lim SW, Ahn JH, Choi A, Cho WH, Lee JA, Kim DH, Seo JH, Lim JS. Efficacy of pamidronate in pediatric osteosarcoma patients with low bone mineral density. Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):21-5.
15: Seo JH, Lee JA, Kim DH, Cho J, Lim JS. Tuberculosis-associated hemophagocytic lymphohistiocytosis in adolescent diagnosed by polymerase chain reaction. Korean J Pediatr. 2016 Jan;59(1):43-6.
16: Lee JA, Paik EK, Seo J, Kim DH, Lim JS, Yoo JY, Kim MS. Radiotherapy and gemcitabine-docetaxel chemotherapy in children and adolescents with unresectable recurrent or refractory osteosarcoma. Jpn J Clin Oncol. 2016 Feb;46(2):138-43.
17: Ahn JH, Cho WH, Lee JA, Kim DH, Seo JH, Lim JS. Bone mineral density change during adjuvant chemotherapy in pediatric osteosarcoma. Ann Pediatr Endocrinol Metab. 2015 Sep;20(3):150-4.
18: Lim SW, Ahn JH, Lee JA, Kim DH, Seo JH, Lim JS. Early menarche is associated with metabolic syndrome and insulin resistance in premenopausal Korean women. Eur J Pediatr. 2016 Jan;175(1):97-104.
19: Jang WI, Kim MS, Lim JS, Yoo HJ, Seo YS, Han CJ, Park SC, Kay CS, Kim M, Jang HS, Lee DS, Chang AR, Park HJ. Survival Advantage Associated with Metformin Usage in Hepatocellular Carcinoma Patients Receiving Radiotherapy: A Propensity Score Matching Analysis. Anticancer Res. 2015 Sep;35(9):5047-54
20: Lee JA, Hwang JS, Hwang IT, Kim DH, Seo JH, Lim JS. Low vitamin D levels are associated with both iron deficiency and anemia in children and adolescents. Pediatr Hematol Oncol. 2015 Mar;32(2):99-108.
21: Lim JS, Seo JH, Kim DH, Lee JA. The hemoglobin values of Korean adolescents show distinctive characteristics in comparison to those of Caucasians and African Americans. Pediatr Blood Cancer. 2015 Mar;62(3):409-13
22: Lim JS, Lim SW, Ahn JH, Song BS, Shim KS, Hwang IT. New Korean reference for birth weight by gestational age and sex: data from the Korean Statistical Information Service (2008-2012). Ann Pediatr Endocrinol Metab. 2014 Sep;19(3):146-53.
23: Song BS, Kim EK, Seol H, Seo JH, Lee JA, Kim DH, Lim JS. Giant juvenile fibroadenoma of the breast: a case report and brief literature review. Ann Pediatr Endocrinol Metab. 2014 Mar;19(1):45-8.
24: Kim YJ, Lee HS, Lee YJ, Lim JS, Kim SY, Kim EY, Jin DK, Hwang IT, Hwang JS. Multicenter clinical trial of leuprolide acetate depot (Luphere depot 3.75 mg) for efficacy and safety in girls with central precocious puberty. Ann Pediatr Endocrinol Metab. 2013 Dec;18(4):173-8.
25: Ahn JH, Lim SW, Song BS, Seo J, Lee JA, Kim DH, Lim JS. Age at menarche in the Korean female: secular trends and relationship to adulthood body mass index. Ann Pediatr Endocrinol Metab. 2013 Jun;18(2):60-4.
26: Song BS, Seo J, Kim DH, Lim JS, Yoo JY, Lee JA. Gemcitabine and docetaxel for the treatment of children and adolescents with recurrent or refractory osteosarcoma: Korea Cancer Center Hospital experience. Pediatr Blood Cancer. 2014 Aug;61(8):1376-81.
27: Yi KH, Hwang JS, Kim EY, Lee SH, Kim DH, Lim JS. Prevalence of insulin resistance and cardiometabolic risk in Korean children and adolescents: a population-based study. Diabetes Res Clin Pract. 2014 Jan;103(1):106-13
28: Seo J, Kim DH, Lim JS, Koh JS, Yoo JY, Kong CB, Song WS, Cho WH, Jeon DG, Lee SY, Lee JA. High-dose chemotherapy and autologous peripheral blood stem cell transplantation in the treatment of children and adolescents with Ewing sarcoma family of tumors. Korean J Pediatr. 2013 Sep;56(9):401-6.
29: Yi KH, Hwang JS, Kim EY, Lee JA, Kim DH, Lim JS. Reference values for bone mineral density according to age with body size adjustment in Korean children and adolescents. J Bone Miner Metab. 2014 May;32(3):281-9.
30: Kang MJ, Lim JS. Bone mineral density deficits in childhood cancer survivors: Pathophysiology, prevalence, screening, and management. Korean J Pediatr. 2013 Feb;56(2):60-7.
31: Lim JS, Jang GC, Moon KR, Kim EY. Combined aerobic and resistance exercise is effective for achieving weight loss and reducing cardiovascular risk factors without deteriorating bone health in obese young adults. Ann Pediatr Endocrinol Metab. 2013 Mar;18(1):26-31
32: Lim JS. The current state of dyslipidemia in Korean children and adolescents and its management in clinical practice. Ann Pediatr Endocrinol Metab. 2013Mar;18(1):1-8.
33: Park HK, Hwang JS, Moon JS, Lee JA, Kim DH, Lim JS. Healthy range of serum alanine aminotransferase and its predictive power for cardiovascular risk in children and adolescents. J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):686-91.
34: Kang EK, Lim JS, Lee JA, Kim DH. Comparison of immune response by virus infection and vaccination to 2009 pandemic influenza A/H1N1 in children. J Korean Med Sci. 2013 Feb;28(2):274-9.
35: Kim SY, Kim YK, Eun BW, Kim NH, Kang EK, Lee BS, Lim JS, Lee JA, Kim DH. Evaluation of immunogenicity of the 2008-2009 seasonal influenza vaccines by microneutralization test. Korean J Pediatr. 2012 Dec;55(12):474-80.
36: Kim YK, Eun BW, Kim NH, Kang EK, Lee BS, Kim DH, Lim JS. Comparison of immunogenicity and reactogenicity of split versus subunit influenza vaccine in Korean children aged 6-35 months. Scand J Infect Dis. 2013 Jun;45(6):460-8.
37: Yang S, Hwang JS, Park HK, Lee HS, Kim HS, Kim EY, Lim JS. Serum lipid concentrations, prevalence of dyslipidemia, and percentage eligible for pharmacological treatment of Korean children and adolescents; data from the Korea National Health and Nutrition Examination Survey IV (2007-2009). PLoS One. 2012;7(12):e49253.
38: Lim JS, Kim DH, Lee JA, Kim DH, Cho J, Cho WH, Lee SY, Jeon DG. Young age at diagnosis, male sex, and decreased lean mass are risk factors of osteoporosis in long-term survivors of osteosarcoma. J Pediatr Hematol Oncol. 2013Jan;35(1):54-60.
39: Lee JA, Ko Y, Kim DH, Lim JS, Kong CB, Cho WH, Jeon DG, Lee SY, Koh JS. Epidermal growth factor receptor: is it a feasible target for the treatment of osteosarcoma? Cancer Res Treat. 2012 Sep;44(3):202-9.
40: Lim JS, Jin SH, Kim SB, Lee JI. Effect of bisphosphonates on bone mineral density and fracture prevention in gastric cancer patients after gastrectomy. J Clin Gastroenterol. 2012 Sep;46(8):669-74.
41: Kim SY, Lim JS, Kim DH, Lee HJ, Cho JB, Lee JA, Kim DH. Candida tropicalis arthritis of the elbow in a patient with Ewing's sarcoma that successfully responded to itraconazole. Korean J Pediatr. 2011 Sep;54(9):385-8.
42: Lim JS, Lee JI. Prevalence, pathophysiology, screening and management of osteoporosis in gastric cancer patients. J Gastric Cancer. 2011 Mar;11(1):7-15.
43: Kim DH, Kim SY, Lee HJ, Song BS, Kim DH, Cho JB, Lim JS, Lee JA. Assessment of Chemotherapy Response Using FDG-PET in Pediatric Bone Tumors: A Single Institution Experience. Cancer Res Treat. 2011 Sep;43(3):170-5.
44: Lee KM, Lee HW, Kim SY, Lee HJ, Kim DH, Cho J, Kim DH, Lim JS, Lee JK, Lee JA. Two pediatric osteosarcoma cases with delayed methotrexate excretion: its clinical course and management. Cancer Res Treat. 2011 Mar;43(1):67-70.
45: Lee JA, Kim DH, Cho J, Lim JS, Koh JS, Yoo JY, Kim MS, Kong CB, Song WS, Cho WH, Lee SY, Jeon DG. Treatment outcome of Korean patients with localized Ewing sarcoma family of tumors: a single institution experience. Jpn J Clin Oncol. 2011Jun;41(6):776-82.
46: Lee JA, Jung JS, Kim DH, Lim JS, Kim MS, Kong CB, Song WS, Cho WH, Jeon DG, Lee SY, Koh JS. RANKL expression is related to treatment outcome of patients with localized, high-grade osteosarcoma. Pediatr Blood Cancer. 2011 May;56(5):738-43.
47: Ko JH, Lee HS, Lim JS, Kim SM, Hwang JS. Changes in bone mineral density and body composition in children with central precocious puberty and early puberty before and after one year of treatment with GnRH agonist. Horm Res Paediatr. 2011;75(3):174-9
48: Park JY, Lim JS, Park EY, Cho AR, Kim BI, Cheon GJ, Choi CW, Lim SM. The Prevalence and Characteristics of Brown Adipose Tissue in an (18)F-FDG PET Study of Koreans. Nucl Med Mol Imaging. 2010 Sep;44(3):207-12
49: Lim JS, Lee JA, Hwang JS, Shin CH, Yang SW. Non-catch-up growth in intrauterine growth-retarded rats showed glucose intolerance and increased expression of PDX-1 mRNA. Pediatr Int. 2011 Apr;53(2):181-6
50: Lee JA, Kim DH, Lim JS, Koh JS, Kim MS, Kong CB, Song WS, Cho WH, Lee SY, Jeon DG. Soft-tissue Ewing sarcoma in a low-incidence population: comparison to skeletal Ewing sarcoma for clinical characteristics and treatment outcome. Jpn J Clin Oncol. 2010 Nov;40(11):1060-7
51: Lim JS, Mietus-Snyder M, Valente A, Schwarz JM, Lustig RH. The role of fructose in the pathogenesis of NAFLD and the metabolic syndrome. Nat Rev Gastroenterol Hepatol. 2010 May;7(5):251-64.
52: Lim JS, Hwang JS, Lee JA, Kim DH, Park KD, Cheon GJ, Shin CH, Yang SW. Bone mineral density according to age, bone age, and pubertal stages in Korean children and adolescents. J Clin Densitom. 2010 Jan-Mar;13(1):68-76
53: Lee JA, Kim MS, Koh JS, Kim MS, Kim DH, Lim JS, Kong CB, Song WS, Cho WH, Lee SY, Jeon DG. Osteosarcoma of the flat bone. Jpn J Clin Oncol. 2010Jan;40(1):47-53.
54: Lim JS, Hwang JS, Cheon GJ, Lee JA, Kim DH, Park KD, Yi KH. Gender differences in total and regional body composition changes as measured by dual-energy x-ray absorptiometry in Korean children and adolescents. J Clin Densitom. 2009 Apr-Jun;12(2):229-37.
55: Lee JA, Kim MS, Kim DH, Lim JS, Park KD, Song WS, Cho WH, Lee SY, Jeon DG. Risk stratification based on the clinical factors at diagnosis is closely related to the survival of localized osteosarcoma. Pediatr Blood Cancer. 2009Mar;52(3):340-5.
56: Lee JA, Kim MS, Kim DH, Lim JS, Park KD, Cho WH, Song WS, Lee SY, Jeon DG. Postoperative infection and survival in osteosarcoma patients. Ann Surg Oncol. 2009 Jan;16(1):147-51.
57: Lee JA, Kim MS, Kim DH, Lim JS, Park KD, Song WS, Lee SY, Jeon DG. Osteosarcoma developed in the period of maximal growth rate have inferior prognosis. J Pediatr Hematol Oncol. 2008 Jun;30(6):419-24.
58: Lim JS, Kim SB, Bang HY, Cheon GJ, Lee JI. High prevalence of osteoporosis in patients with gastric adenocarcinoma following gastrectomy. World J Gastroenterol. 2007 Dec 28;13(48):6492-7.
59: Lee JA, Kim MS, Kim DH, Lim JS, Yoo JY, Koh JS, Lee SY, Jeon DG, Park KD. Relative tumor burden predicts metastasis-free survival in pediatric osteosarcoma. Pediatr Blood Cancer. 2008 Feb;50(2):195-200.
60: Lee JA, Kim DH, Lim JS, Park KD, Song WS, Lee SY, Jeon DG. The survival of osteosarcoma patients 10 years old or younger is not worse than the survival of older patients: a retrospective analysis. Cancer Res Treat. 2007 Dec;39(4):160-4.


Awards

Best oral presentation for “Catch-up Growth Affects Glucose Metabolism and PDX-1 mRNA Expression in Rats with Intrauterine Growth Retardation” in Annual meeting of Korean Society of Pediatrics. October, 22, 2007


X
  • Kee-Hyoung Lee, South Korea
Affiliation
Korea University, College of Medicine
Session
[Plenary 2: Diabetes] Oct. 6, 2022 (Thu.) 14:45-15:30 - Chairperson
Biography
 EDUCATION
1979 – 1985 M.D. Korea University, College of Medicine
1988 – 1990 M.S. Korea University, College of Medicine
1992 – 1994 Ph.D. Korea University, College of Medicine


 PROFESSIONAL CAREER

Korea University
1986 – 1989 Resident, Department of Pediatrics, Korea University Hospital
1992 – 1994 Clinical Instructor, Department of Pediatrics, Korea University Hospital
1994 –1999 Assistant Professor, Department of Pediatrics, Korea University, College of Medicine
1996 – 1998 Postdoctoral Research Fellow, Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill, USA
1999 – 2004 Associate Professor, Department of Pediatrics, Korea University, College of Medicine,
2004 – present Professor, Department of Pediatrics, Korea University, College of Medicine
2012 – 2014 Vice-president, Korea University Anam Hospital
2014 – 2015 Chairman, Department of Pediatrics, Korea University Anam Hospital
2016 – 2017 President, Korea University Anam Hospital
2018 – 2019 President of Korea University Medicine

Academic Societies
1999 – 2007 General Secretary, Korean Society of Pediatric Endocrinology
2007 – 2009 Director of Publication, Korean Society of Pediatric Endocrinology
2009 – 2011 Chief of scientific committee, Korean Society of Pediatric Endocrinology
2009 – 2012 Chief of Committee of Pediatric Obesity , Korean Society for the Study of Obesity
2015 – 2017 President, Korean Society of Pediatric Endocrinology
2016 – 2018 Council Member of Asia Pacific Pediatric Endocrine Society
2017 President, Korean Society for the Study of Obesity


 BIBLIOGRAPHY ( 2010-present, recent 10 years)

1. Comparison of Clinical Factors according to Growth Velocity during Gonadotropin-Releasing Hormone Agonist Treatment in Central Precocious Puberty Girls. Hyo-Kyoung Nam, Jung Yeon Shin, Yeon Joung Oh, Young Jun Rhie, Young Yoo, Sang Hee Park, Kee-Hyoung Lee. Endocrinol Metab 2010 ;25:206-212.
2. Isolated pulmonary cryptococcosis in an immunocompetent boy. Bauer S, Kim JE, La KS, Yoo Y, Lee KH, Park SH, Choung JT, Kim CW. Korean Journal of Pediatrics 2010;53:971-974.
3. Effects of body composition, leptin, and adiponectin on bone mineral density in prepubertal girls. Rhie YJ, Lee KH, Chung SC, Kim HS, Kim DH. J Korean Med Sci 2010; 25:1187-1190.
4. Association of serum retinol binding protein 4 with adiposity and pubertal development in Korean children and adolescents. Rhie YJ, Choi BM, Eun SH, Son CS, Park SH, Lee KH. J Korean Med Sci 2011;26:797-802.
5. Serum kisspeptin levels in Korean girls with central precocious puberty. Rhie YJ, Lee KH, Eun SH, Choi BM, Chae HW, Kwon AR, Lee WJ, Kim JH, Kim HS. J Korean Med Sci 2011;26:927-931.
6. Low serum adiponectin levels in Korean children with a family history of type 2 diabetes mellitus. Oh YJ, Nam HK, Rhie YJ, Park SH, Lee KH. Hormone research in paediatrics 2012;77:382-387.
7. Factors to predict positive results of gonadotropin releasing hormone stimulation test in girls with suspected precocious puberty Nam HK, Rhie YJ, Son CS, Park SH, Lee KH. . J Korean Med Sci 2012;27:194-199.
8. Psychological characteristics of Korean children and adolescents with type 1 diabetes mellitus. Cho E, Shin SH, Eun SH, Kim JY, Nam HK, Lee KH, Rhie YJ. Annals of pediatric endocrinology & metabolism 2013;18:122-127.
9. Efficacy of short-term growth hormone treatment in prepubertal children with idiopathic short stature. . Kim HS, Yang SW, Yoo HW, Suh BK, Ko CW, Chung WY, Lee KH, Hwang JS, Ji HJ, Ahn H, Kim DH. J Korean Med Sci 2014;55:53-60.
10. Age of menarche and near adult height after long-term gonadotropin-releasing hormone agonist treatment in girls with central precocious puberty. Baek JW, Nam HK, Jin D, Oh YJ, Rhie YJ, Lee KH. J Korean Med Sci 2014;19:27-31.
11. KISS1 gene polymorphisms in Korean girls with central precocious puberty. Rhie YJ, Lee KH, Ko JM, Lee Wj, Kim JH, Kim HS J Korean Med Sci 2014;29:1120-1125.
12. Serum kisspeptin levels in Korean girls with central precocious puberty. Rhie YJ, Lee KH, Eun SH, Choi BM, Chae HW, Kwon AR, Lee WJ, Kim JH, Kim HS. J Korean Med Sci 2011;26:927-931.
13. Influence of bottle-feeding on serum bisphenol a levels in infants. Rhie YJ, Nam HK, Oh YJ, Kim HS, Lee KH J Korean Med Sci 2014;29:261-264.
14. Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population. Cheon CK, Nam HK, Lee KH, Kim SY, Song JS, Kim C. Pediatrics International 2015;
15. Qualitative assessment of precocious puberty-related user-created contents on YouTube. Nam HK, Bang SM, Rhie YJ, SH Park SH, Lee KH. Ann Pediatr Endocrinol Metab 2015; 20: 143–149.
16. Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes. Hyun Ah Jeong, Yoon Kyoung Park, Yeong Sang Jung, Myung-Hyun Nam, Hyo-Kyoung Nam, Kee Hyoung Lee, Young-Jun Rhie. Ann Pediatr Endocrinol Metab 2015; 20: 230–234.
17. Upper Normal Alanine Aminotransferase Range and Insulin Resistance in Korean Adolescents: Korean National Health and Nutrition Examination Survey, 2009-2010. Lee Y, Han KD, Jung JJ, Lee KH, Cho KH, Kim YH Digestive Diseases and Sciences 2016; 61:1700-1706
18. Diabetic Ketoacidosis with Hyperglycemic Hyperosmolar State at the Onset of Type 2 Diabetes Mellitus in an Adolescent Male. Jong Hyun Kim, Eunjin Choi, Young Jun Rhie, Jung Hwa Lee, Kee-Hyoung Lee, Hyo-Kyoung Nam. Soonchunhyang Medical Science 2016;22:158-162
19. Treatment outcomes of gonadotropin-releasing hormone agonist in obese girls with central precocious puberty. HR Kim, HK Nam, YJ Rhie, KH Lee. Ann Pediatr Endocrinol Metab 2017; 22: 259–265.
20. Serum FGF21 Levels in Obese Korean Children and Adolescents. Joonwoo Baek, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee. Journal of Obesity & Metabolic Syndrome 2017; 26: 204-209.
21. Trends in socioeconomic inequalities in five major risk factors for cardiovascular disease in the Korean population: a cross-sectional study using data from the Korea National Health and Nutrition Examination Survey, 2001-2014. Yoon Jung Kim, Ji Sung Lee, Juri Park, Dong Seop Choi, Doo Man Kim, Kee-Hyoung Lee, Ho Yeon Kim, Sin Gon Kim, Juneyoung Lee. BMJ Open 2017;0:e014070.
22. Trends in the prevalence of extreme obesity among Korean children and adolescents from 2001 to 2014. Hyo-Kyoung Nam, Hye Ryun Kim, Young-Jun Rhie, Kee-Hyoung Lee. Journal of Pediatric Endocrinology and Metabolism 2017;30: 517-523.
23. A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl. Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee. Annals of Clinical & Laboratory Science 2017;47:221-225.
24. Serum Anti-Mullerian Hormone Levels in Precocious Puberty Girls according to Stage of GnRH Agonist Treatment. Nam HK, Kim HR, Rhie YJ, Lee KH. J Korean Med Sci 2017;32:475-479.
25. Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1. Hyo-Kyoung Nam, Myung-Hyun Nam, Hye Ryun Kim, Young-Jun Rhie, Kee Hwan Yoo and Kee-Hyoung Lee. Annals of Clinical & Laboratory Science 2017; 47:83-87.
26. Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty. Oh YJ, Rhie YJ, Nam HK, Kim HR, Lee KH. J Korean Med Sci 2017;32:108-114.
27. Thyroid Function in Korean Adolescents with Obesity: Results from the Korea National Health and Nutrition Examination Survey VI (2013–2015). Won Kyoung Cho, Hyo-Kyoung Nam, Jae Hyun Kim, Young-Jun Rhie, Sochung Chung, Kee-Hyoung Lee, Byung-Kyu Suh. International Journal of Endocrinology 2018; Article ID 6874395, 7 pages.
28. Comparison of postnatal catch-up growth according to definitions of small for gestational age infants. Jisun Huh, Ji Yoon Kwon, Hye Ryun Kim, Eun Hee Lee, Young-Jun Rhie, Byung Min Choi, Kee-Hyoung Lee. Korean J Pediatr 2018; 61: 71–77.
29. Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial. Chung WY, Yoo HW, Hwang JS, Ko CW, Kim HS, Jin DK, Lee KH, Han HS, Paranchothy P, Suh BK. Hormone Research in Paediatrics 2018;90:44–53.
30. Serum Osteocalcin Levels in Girls with Central Precocious Puberty: Relation to the Onset of Puberty. Won Young Lee, Geehae Jung, Hye Ryun Kim, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee. Tohoku J. Exp Med 2018; 245: 239-243.
31. Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study. Hwang JS, Lee HS, Lee KH, Yoo HW, Lee DY, Suh BK, Ko CW, Chung WY, Jin DK, Shin CH, Han HS, Han SK • Kim HS . Hormone Research in Paediatrics 2018;90:54–63.
32. Design of the long-term observational cohort study with recombinant human growth hormone in Korean children: LG Growth Study. Chung S, Yoo JH, Choi JH, Rhie YJ, Chae HW, Kim JH, Hwang IT, Shin CH, Kim EY, Lee KH. Ann Pediatr Endocrinol Metab 2018;23:43-50.
33. HbA1c Cutoff for Prediabetes and Diabetes Based on Oral Glucose Tolerance Test in Obese Children and Adolescents. Nam HK, Cho WK, Kim JH, Rhie YJ, Chung S, Lee KH, Suh BK. J Korean Med Sci 2018;33(12):e93.
34. Low levels of 25-hydroxyvitamin D in children and adolescents with type 1 diabetes mellitus: a single center experience. Bae KN, Nam HK, Rhie YJ, Song DJ, Lee KH. Ann Pediatr Endocrinol Metab 2018;23:21-27.
35. Daily sitting time associated with the risk of metabolic syndrome in Korean adolescents. J Pediatr Endocrinol Metab Bae KN, Kim HR, Rhie YJ, Lee KH, Nam HK. 2018;26:63-69
36. Vitamin D level and gene polymorphisms in Korean children with type 1 diabetes. Hyo-Kyoung Nam1, Young-Jun Rhie, Kee-Hyoung Lee. Pediatr Diabetes 2019;20:750-758.
37. Idiopathic Short Stature Phenotypes among Korean Children: Cluster Analysis. Hyo-Kyoung Nam, Hye Ryun Kim, Kee-Hyoung Lee and Young-Jun Rhie. Tohoku J Exp Med 2019;248:193-200.
38. Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo-Kyoung Nam, Young-Jun Rhie, Seung Yang, Kee-Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang. Mol Genet Genomic Med 2020 ;00:e1146.


X
  • Kenichi Kashimada, Japan
Affiliation
Tokyo Medical and Dental University (TMDU)
Session
[Oral Presentation Session 1] Oct. 7, 2022 (Fri.) 13:00-14:00 - Chairperson


X
  • Kye Shik Shim, South Korea
Affiliation
Kyung Hee University, College of Medicine
Session
[Oral Presentation Session 4] Oct. 8, 2022 (Sat.) 10:30-11:30 - Chairperson
Biography
Education
Kyung Hee University School of Medicine, Korea - MD
Kyung Hee University Hospital, Seoul, Korea - Pediatrician
Graduate School of Medicine, Kyung Hee University - PhD

Experience
Clinical & Research Fellow, Seoul National University Hospital, Korea (1997-1998)
Visiting Faculty, Johns Hopkins University Hospital, USA (2009-2011)

Specialty
Growth disorder (short stature)
Pubertal disorder (precocious puberty)


X
  • Maria Craig, Australia
Affiliation
School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney
Session
[Plenary 2: Diabetes] Oct. 6, 2022 (Thu.) 14:45-15:30_[Symposium 5: Type 1 DM] Oct. 7, 2022 (Fri.) 10:15-11:45 - Chairperson
Biography
Prof Maria Craig is a Paediatric Endocrinologist at the Children’s Hospital Westmead & St George Hospital in Sydney, Australia; Professor of Paediatric Endocrinology, University of New South Wales & University of Sydney, Medical Director, Australasian Diabetes Data Network and President-Elect of the Asia Pacific Paediatric Endocrine Society (APPES). Her major research focus is childhood diabetes, including etiology, epidemiology, evidence-based care and prevention. She has authored more than 280 publications and is editor-in chief of the International Society for Pediatric and Adolescent Diabetes (ISPAD) 2022 Clinical Care Guidelines.


X
  • Muhammad Yazid Jalarudin, Malaysia
Affiliation
University of Malaya
Session
[Symposium 2: Puberty] Oct. 6, 2022 (Thu.) 15:45-17:15 - Chairperson
Biography
Professor Dr Muhammad Yazid Jalaludin is The Deputy Dean (Undergraduate Studies) at the Faculty of Medicine, University Malaya. He is a Professor of Paediatrics at the Faculty of Medicine, Universiti Malaya and a practicing Senior Consultant Paediatrician and Senior Consultant Paediatric Endocrinologist at the University Malaya Medical Centre (UMMC). He completed his fellowship in Pediatric Endocrinology and Diabetes at Children’s Hospital of Philadelphia (CHOP), USA after obtaining his MBBS and Masters in Paediatrics, both from University Malaya.

He is currently the Chairman of the Malaysian Paediatric Endocrinology and Diabetes Group (MPEDG), Vice President of the Malaysian Endocrine and Metabolic Society (MEMS 2022-2024), Immediate Past President of the Asia Pacific Paediatric Endocrine Society (APPES 2020-2022) and an executive council member of the Malaysian Paediatric Association (MPA 2021-2023). He is also a member of The Endocrine Society USA and the International Society for Paediatric and Adolescent Diabetes (ISPAD).

Prof Jalaludin main research interest is in obesity and type 2 diabetes mellitus, growth (nutrition) and vitamin D in children. He holds many national and international research grants and acts as Scientific Advisor for many multi-centre international researches for type 2 diabetes and obesity in children. His work has been published in various academic journals including in the New England Journal of Medicine (NEJM).


X
  • Noriyuki Namba, Japan
Affiliation
Faculty of Medicine, Tottori University
Session
[Plenary 4: Bone] Oct. 8, 2022 (Sat.) 08:45-09:30_[Symposium 4: Bone and Calcium] Oct. 7, 2022 (Fri.) 10:15-11:45 - Chairperson


X
  • Paul Hofman, New Zealand
Affiliation
The University of Auckland
Session
[Plenary 3: Sex and Gender] Oct. 7, 2022 (Fri.) 08:00-08:45 - Chairperson


X
  • Prapai Dejkhamron, Thailand
Affiliation
Chiang Mai University
Session
[Oral Presentation Session 3] Oct. 8 , 2022 (Sat.) 10:30-11:30_[Meet the Expert 4] Oct. 7, 2022 (Fri.) 16:30-17:15 - Chairperson
Topic
Management of Prader-Willi Symdrome


X
  • Reiko Horikawa, Japan
Affiliation
National Center for Child Health and Development
Session
[Meet the Expert 3] Oct. 7, 2022 (Fri.) 16:30-17:15_[Symposium 3: Adrenal/DSD] Oct. 6, 2022 (Thu.) 15:45-17:15 - Chairperson
Topic
Diagnosis and Management of PCOS


X
  • Se Young Kim, South Korea
Affiliation
Daejin Medical Center, Bndang Jesaeng General Hospital
Session
[Oral Presentation Session 2] Oct. 7 , 2022 (Fri.) 13:00-14:00 -Chairperson
Biography
EDUCATION

1986-1988 Seoul National Univ. College of Liberal Arts & Sciences Premedical Course
1988-1992 M.D. Seoul National Univ. College of Medicine Medicine
1996-1998 M.S. Seoul National Univ. College of Medicine Postgraduate course
1999- 2002 Ph.D. Seoul National Univ. College of Medicine Postgraduate course
2014-2015 Visiting Scholorship Johns Hopkins Unv. Department of Pediatrics Department of ped endocine Postdoc Research Fellow

POSTGRADUATE TRAINING

1992-1993 Intern Seoul National University Hospital, Seoul, Korea
1993-1997 Resident in Pediatrics Seoul National University Hospital, Seoul, Korea
1997-1998 Fellowship in Pediatrics (pediatric endocrinology) Seoul National University Hospital, Seoul, Korea
1998-Present Pediatric endocrinology Director DMC, Bundang Jesaeng Gen Hosp. Department of Pediatrics
2014-2016 Associate Professor Kwandong University, College of Medicine, Department of Pediatrics

PROFESSIONAL CERTIFICATION

February 28, 1992 Licenced to Practice Medicine by the Korean Medical Association
March 16, 1997 Board Certified in Pediatrics by the Korean Pediatric Association
October 10, 2007 Board Certified in Pediatric Endocrinology by the Korean Pediatric Endocrinology Society

PROFESSIONAL SOCIETY AND COMMITTEE ACTIVITIES

Member - The Korean Medical Association
Member - The Korean Pediatric Association
Member - Korean Society of Pediatric Endocrinology
Member- Asia Pacific Pediatric Endocrine Society
Member of Endocrine society in the United States
Member of European Society of Pediatric Endocrinology

Articles of authorship

1. The Treatment outcome of the hyperthyroidism children. J Korean Soc Pediatr Endocronol 1996 Mar;1(1): 60-68

2. A Case of Mauriac’s Syndrome. Korean J Pediatr 1996. July;39(7):1020-1024.

3. A Case of Intestinal Neuronal Dysplasia. Korean J Pediatr 1996 August;39(8):1151-1157.

4. Study on the Thyroid Function of Neonate Born to Mother with Hyperthyroidism. Korean J Pediatr 1996;39(1):106-114.

5. The Analysis of the Difference of Bone Age with G-P Method and TW2 Method.J Korean Endocr Soc 1998;13(2): 665-667.

6. Change in Endocrine Function after Treatment of Craniopharyngioma. J Korean Soc Pediatr Endocrinol 1997 Mar;2(1):42-52.

7. Growth and Growth-determining Factors in Girls with Idiopathic Central Precocious Puberty Treated with Long-acting Luteinizing Hormone-Releasing Hormone Analogue. J Korean Soc Pediatr Endocrinol 1997 Sep;2(2):217-225.

8. A Case of Berardinelli Lipodystrophy Syndrome. J Korean Soc Pediatr Endocrinol. 1997 Sep;2(2):274-276.

9. Children with Congenital Hypothyroidism, Diagnosed After 1 Month of Life. J Korean Pediatr Endocrinol 1998 May;3(1):73-78

10. Clinical Characteristics, Including Endocrinological Changes, of Optic Glioma in Children. Korean J Pediatr 1998August;41(8):1111-1119.

11. Changes in Endocrine Function with Treatment of Intracranial Germ Cell Tumor. Korean J Pediatr 1998 August;41(8):1120-1127

12. Serum Levels of Insulin-Like Growth Factor-1 and Insulin-Like Growth Factor Binding Protein-3 between Short Children with or without Intrauterine Growth Retardation. Korean J Pediatr 1999 March;42(3):390-396

13. Usefulness of Minimal Model Analysis : Measurement of Insulin Sensitivity, Glucose Effectiveness, and Insulin Secretory Capacity from Pancreatic Islet Cells in Children with Simple Obesity or Type 2 Diabetes Mellitus Korean J Pediatr 1999 April;42(4):561-570.

14. Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots. Korean J Pediatr 1999 December;42(12):1639-1644.

15. The Relationship of the Levels of Leptin, Insulin-like Growth Factor-I and Insulin in Cord Blood with Birth Size, Ponderal Index, and Gender Difference. J Pediatr Endocrinol Metab 2000;13:289-296.

16. February 2002 (holding doctorate with this article) The Relationships of the Pheotypes, Genotypes, And HLA Class I Subtypes in CAH Patients with 21-Hydroxylase Deficiency

17. Endocrinopathy after Brain Tumor in Children J Korean Soc Pediatr Endocrinol 2003 Dec;8(2):133-138.

18. A Case of Influenza-associated Encephalopathy. Korean J Pediatr 2003 October;46(10):1024-1028

19. Insulin Resistance and Lipid Profiles in Obese Children. J Korean Soc Pediatr Endocrinol 2004 Jun;9(1):50-58.

20. Final Adult Height and Its Influencing Factors in Patients with Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency. J Korean Soc Pediatr Endocrinol 2005 Jun;10(1):42-49.

21. A Study of Serum Adiponectin and Insulin Resistance in Children and Adolescents. J Korean Soc Pediatr Endocrinol 2007 Jun;12(1):63-70.

22. Growth and Sex Differentiation of Children Born Small for Gestational Age. Korean J Pediatr 2009 February;52(2):142-151

23. The Relationship Between Initial Body Mass Index and Body Mass Index after One Year of Gonadotropin-Releasing Hormone Agonist Therapy in Idiopathic True Precocious Puberty Girls. J Korean Soc Pediatr Endocrinol 2011 Dec;16(3):165-171.

24. E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes
World Journal of Pediatrics
2012 | journal-article
DOI: 10.1007/s12519-012-0355-3

25. Changes in the Predicted Adult Height after Gonadotropin-Releasing Hormone Agonist Treatment in Girls with Idiopathic True Precocious Puberty. Ann Pediatr Endocrinol Metab 2012 Sep;17(3):160-168.

26. The pleiomorphic actions of vitamin D and its importance for children. Ann Pediatr Endocrinol Metab 2013 Jun;18(2):45-54

27. Multicenter clinical trial of leuprolide acetate depot (Luphere depot 3.75 mg) for efficacy and safety in girls with central precocious puberty. Kim YJ, Lee HS, Lee YJ, Lim JS, Kim SY, Kim EY, Jin DK, Hwang IT, Hwang JS. Ann Pediatr Endocrinol Metab 2013 Dec;18(4):173-178. English. Original Article

28. The relationship between serum adiponectin and inflammatory cytokines in obese Korean juveniles Korean J Pediatr 2014 December;57(12) :533-537
DOI: 10.3345/kjp.2014.57.12.533

29. Endocrine and metabolic emergencies in children: hypocalcemia, hypoglycemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis. Ann Pediatr Endocrinol Metab 2015 Dec;20(4):179-186.

30. The Author Reply: Endocrine and metabolic emergencies in children: hypocalcemia, hypoglycemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis. Ann Pediatr Endocrinol Metab 2016;21:111-112

31. Contributions of CAG repeat length in the androgen receptor gene and androgen profiles to premature pubarche in Korean girls. Endocrine Journal 2017, 64 (1), 91-102 2017 | journal-article
DOI: 10.1507/endocrj.EJ16-0300

32. Etiology and treatment of central precocious puberty. J Korean Med Assoc 2018 October; 61(10):591-598 pISSN 1975-8456 / eISSN 2093-5951 https://doi.org/10.5124/jkma.2018.61.10.591

33. Comparing adult height gain and menarcheal age between girls with central precocious puberty treated with gonadotropin-releasing hormone agonist alone and those treated with combined growth hormone therapy. Annals of Pediatric Endocrinology & Metabolism 2019-06-30 | journal-article
DOI: 10.6065/apem.2019.24.2.116

34. J Pediatr Endocrinol Metab 2020; 33(1): 71–78
Mo Kyung Jung, Jeesuk Yu, Ji-Eun Lee, Se Young Kim, Hae Soon Kim and Eun-Gyong Yoo*
Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
https://doi.org/10.1515/jpem-2019-0311

35. Secular change in waist circumference and waist-height ratio and optimal cutoff of waist-height ratio for abdominal obesity among Korean children and adolescents over 10 years. Min Sub Kim, MD1, Se Young Kim, MD1, Jae Hyun Kim, MD2
Korean J Pediatr 2019;62(7):261-268
https://doi.org/10.3345/kjp.2018.07038
pISSN 1738-1061•eISSN 2092-7258

36. Diagnosis and treatment of short stature Clinical Pediatrics 2020. p 189-201 The Korean Society of Pediatrics ISBN 978-89-98707-2-5

37. Islet cell transplantation transitioning to proven therapy for type 1 diabetes. Annals of Pediatric Endocrinology & Metabolism. 2021-06-30 | journal-article
DOI: 10.6065/apem.2121006edi02


X
  • Sylvia Estrada, Philippines
Session
[Kaichi Kida Oral Session] Oct. 6 , 2022 (Thu.) 10:00-11:30_[Symposium 6: Thyroid] Oct. 7, 2022 (Fri.) 14:30-16:00 - Chairperson


X
  • Wayne Cutfield, New Zealand
Affiliation
University of Auckland & Starship Children’s Hospital
Session
[Symposium 1: Growth] Oct. 6, 2022 (Thu.) 13:00-14:30 - Chairperson


X
  • Young-Jun Rhie, South Korea
Affiliation
Korea University College of Medicine
Session
[Symposium 1: Growth] Oct. 6, 2022 (Thu.) 13:00-14:30 - Chairperson


X
  • Yung Seng Lee, Singapore
Affiliation
Yong Loo Lin School of Medicine, National University of Singapore
Session
[Meet the Expert 2] Oct. 6, 2022 (Thu.) 17:15-18:00_[Plenary 1: Growth] Oct. 6, 2022 (Thu.) 09:00-09:45 - Chairperson
Topic
Cushing Syndrome


X
  • Anurag Bajpai, India
Affiliation
Regency Center for Diabetes, Endocrinology & Research (CDER)
Session
[Dinner Symposium 2] Oct. 7, 2022 (Fri.) 17:25-18:15
Topic
Presentation Title Facts & the Future of Growth Disorders Management: Overview of REAL Programme
Biography
Dr Anurag Bajpai, MD, FRACP, SCE,
Pediatric & Adolescent Endocrinologist, Regency CDER, Kanpur
Director, MedEClasses

Dr. Anurag Bajpai was trained at All India Institute of Medical Sciences, New Delhi, and Royal Children’s Hospital (RCH), Melbourne, Australia.
Dr. Anurag has been actively involved in research on the role of estrogen in peripubertal males, insulin-like growth factor 1, type 1 and type 2 diabetes in children, diabetic ketoacidosis, childhood obesity, pubertal disorders, rickets, and technology enhancements in the management of Paediatric Endocrine Disorders. He has authored over fifty indexed papers, hundred textbook chapters, and six books related to Pediatric Endocrinology. He has authored Practical Pediatric Endocrinology, Pediatric Endocrinology Protocols, Advances in Pediatric Endocrinology, IAP textbook of Pediatric Endocrinology, MedEClasses Basic Pediatric Endocrinology, IJP Practical Pediatric Endocrinology, and MedEClasses Advanced Pediatric Endocrinology. He is the Section Editor of Endocrinology for the Indian Journal of Pediatrics and on the reviewer panel for the Journal of Pediatrics, Journal of Pediatric Endocrinology & Metabolism, Pediatrics, and Indian Pediatrics. Memorial Research Institute, Gurgaon. He has contributed to developing International GnRH analog treatment guidelines and Type 1 and Growth Hormone guidelines of the Indian Society for Paediatric & Adolescent Endocrinology.
Dr. Anurag has developed the MedEClasses Learning portal with exhaustive resources on Pediatric Endocrinology in video lectures, animated approaches, case scenarios, and assessments. He has developed MedEClasses Endocrinology Application that empowers Paediatricians to solve complicated Pediatric Endocrine Problems. Dr. Anurag has been instrumental in setting up GROW India, a nongovernmental organization that supports children with growth and endocrine disorders.


X
  • Hae Sang Lee, South Korea
Affiliation
Ajou University Hospital
Session
[Luncheon Symposium 1] Oct. 6, 2022 (Thu.) 12:00-12:50
Topic
Safety and Effectiveness Results of LG Growth Study
Biography
Academic records
Bachelor Degree, Ajou University College of Medicine, Suwon, Korea
Master’s Degree of Medical Science, Ajou University College of Medicine, Suwon, Korea
Ph.D. degree of Medical Science, Ajou University College of Medicine, Suwon, Korea

Education and research career
Residency, Severance Hospital, Department of Pediatrics, Ajou University Hospital
Clinical research fellow (Pediatric Endocrinology), Ajou University Hospital, Ajou University College of Medicine
Associate Professor, Ajou University Hospital, Ajou University College of Medicine
Visiting professor Reproductive Endocrine Unit, Massachusetts General Hospital


X
  • Huisuk Yang, South Korea
Affiliation
JUVIC Inc.
Session
[Dinner Symposium 1] Oct. 6, 2022 (Thu.) 18:10-19:00
Topic
Development of Therapeutic Microneedle


X
  • Hyun-Wook Chae, Korea
Affiliation
Gangnam Severance Hospital
Session
[Luncheon Symposium 1] Oct. 6, 2022 (Thu.) 12:00-12:50
Topic
Growth Hormone Treatment Trend in Korea from HIRA Big Data
Biography
Academic records
Bachelor Degree, Yonsei University College of Medicine, Seoul, Korea
Master’s Degree of Medical Science, Yonsei University College of Medicine, Seoul, Korea
Ph.D. degree of Medical Science, Yonsei University College of Medicine, Seoul, Korea

Education and research career
Residency, Severance Hospital, Department of Pediatrics, Yonsei University College of Medicine
Clinical research fellow (Pediatric Endocrinology), Severance Hospital, Yonsei University College of Medicine
Visiting Fellow, Children's Hospital of Philadelphia
Vising professor, KAIST Graduate School of Medical Science and Engineering
Assistant Professor, Associate Professor, Gangnam Severance Hospital, Yonsei University College of Medicine
present


X
  • Hyungil Jung, South Korea
Affiliation
Yonsei University / Juvic Inc.
Session
[Dinner Symposium 1] Oct. 6, 2022 (Thu.) 18:10-19:00
Topic
Trends of Microneedle Technology for Drug Delivery


X
  • Miller Bradley, USA
Affiliation
University of Minnesota
Session
[Dinner Symposium 2] Oct. 7, 2022 (Fri.) 17:25-18:15
Topic
Current Scenario of Managing Growth Disorders with Somatropin
Biography
BRADLEY S. MILLER, MD, PHD
Professor, Department of Pediatrics

MD, Medical University of South Carolina - College of Medicine, Charleston, SC
Residency in Pediatrics, Mayo Clinic, Rochester, MN
Fellowship in Pediatric Endocrinology, Mayo Clinic, Rochester, MN
PhD, Medical University of South Carolina, Charleston, SC
Board certifications:
American Board of Pediatrics
American Board of Pediatrics - Pediatric Endocrinolog

Summary:

Dr. Miller completed his Pediatric residency (2000) and Pediatric Endocrinology fellowship (2003) at the Mayo Clinic. He is a Professor in Pediatric Endocrinology, and has been a member of the division since 2003. Dr. Miller has an interest in the role of the growth hormone (GH)/insulin-like growth factor (IGF) system in normal and abnormal growth in children. Additionally, he is interested in the growth and development of children following adversity including cancer and its therapies, fetal alcohol exposure, and international adoption. Dr. Miller is also interested in the endocrine aspects of abnormal glycosylation in children with Congenital Disorders of Glycosylation. Lastly, Dr. Miller is also interested in Achondroplasia and other skeletal dysplasia conditions.

Award & Recognition

• Clinical Care Award, University of Minnesota Medical School (2018)
• Minnesota Monthly “Top Doctors” (2016-2019, 2021, 2022)
• Best Doctors in America® (2007-2017)
• Minneapolis - St. Paul “Top Doctors” (2011-2021)
• University Pediatric Foundation Scholar, University of Minnesota (2005-2008)
• Novo Nordisk Clinical Scholar Award, Lawson Wilkins Pediatric Endocrine Society (2004-2006)
• Child Health Research Scholar, University of Minnesota (2004-2005)

Publications:

• Miller, B. S., Olson, A., & Olson, J. (2021). Advances in pediatric growth hormone therapy: Visualizing the impact on individualized care [Audio podcast episode]. PeerView Institute for Medical Education. https://learn2.peerview.com/150207199/150207199_p1...
• Miller, B. S. (2021). Growth failure in severe primary insulin-like growth factor-I (IGF-I) deficiency: Optimizing management [Audio podcast episode]. Postgraduate healthcare education, LLC. https://www.powerpak.com/course/preamble/122017
• Pediatric GHD: Working Together to Ensure Success
• European Society for Paediatric Endocrinology Connect Webinar Series; What do we do now that the Long Acting Growth Hormone is Here?: "How to Monitor IGF-1 and What's the Future of LAGH? 5/25/2022. https://www.eurospe.org/education/webinar-series/
• European Society for Paediatric Endocrinology Connect Webinar Series; A Multi-Disciplinary Approach to Noonan Syndrome: "Endocrine Aspects of Noonan Syndrome" 10/12/2021. https://www.eurospe.org/education/webinar-series/previous-webinars/webinar-2-a-multi-disciplinary-approach-to-noonan-syndrome/


X
  • Mitchell Eugene Geffner, USA
Affiliation
Keck School of Medicine of USC
Session
[Luncheon Symposium 2] Oct. 7, 2022 (Thu.) 12:00-12:50
Topic
An Overview of KIGS and Genotropin Use in Children
Biography
Professor of Pediatrics, Keck School of Medicine of USC

Education

Queens College of City University of New York, B.A., 1972 (Magna Cum Laude)
Albert Einstein College of Medicine, M.D., 1975
Los Angeles County University of Southern California Medical Center, June, 1975 June, 1976, Pediatrics
Los Angeles County University of Southern California Medical Center, July, 1976 June, 1979, Pediatrics (including Chief Residency in Pediatrics, July, 1978-June, 1979)
Pediatric Endocrinology, 1979-82, UCLA Department of Pediatrics, Division of Endocrinology and Metabolism (supported by NIH Training Grant, 1981 82)

Honors and Awards

Phi Beta Kappa, 1972
Fellow of the year Teaching Award, UCLA, 1980
Best abstract, Seventh Annual National Cooperative Growth Study Meeting. Phoenix, AZ. October 31, 1993
Best Doctors in America (2001-present)
Finalist, Parker J. Palmer “Courage to Teach” Award (ACGME)
Southern California Super Doctors, 2007-present
America’s Top Doctors, 2007-present
US News & World Report Top Doctor 2011*- present (*top 1% of field in the country)
Los Angeles Magazine Southern California Super Doctors
Pasadena Magazine Top Doctors
Pioneer Award by the Congenital Adrenal Hyperplasia, Research, Education, and Support (CARES) Foundation

Board Certification
Diplomate, American Board of Pediatrics, 1980
Diplomate, American Board of Pediatrics, Subspecialty Board, Endocrinology, 1983
Subspecialty Board, Endocrinology, voluntary recertification, 2006

Professional Background:

Academic appointments
Clinical Instructor in Pediatrics, University of Southern California, 1978-79
Adjunct Assistant Professor of Pediatrics, UCLA, 1982 83
Assistant Professor of Pediatrics, UCLA, 1983 90
Course Director for Third Year Core Clerkship in Pediatrics, UCLA, 1985-1995
Associate Program Director, General Clinical Research Center, UCLA, 1988 1991
Associate Professor of Pediatrics, UCLA, 1990 96
Interim Chief, Division of Pediatric Endocrinology and Metabolism, UCLA, 1994-95
Chief, Division of Pediatric Endocrinology and Metabolism, UCLA, 1995-2001
Professor of Pediatrics, UCLA, 1996-2001
Visiting Professor and Director of Fellowship Training and Education, Division of Pediatric Endocrinology and Diabetes, CHLA, 2002-2003
Professor of Pediatrics, Keck School of Medicine of USC, 2003-present
Director of Fellowship Training, Division of Pediatric Endocrinology and Diabetes, CHLA, 2003-2012
Member, Saban Research Institute of CHLA, 2002-present
Interim Chief, Division Endocrinology, Diabetes, and Metabolism, CHLA, 2009-2012
Chief, Division Endocrinology, Diabetes, and Metabolism, CHLA, 2012-2019
Adjunct Clinical Associate Professor of Pediatrics and Pediatric Endocrinology, AT Still University School of Osteopathic Medicine in Arizona

Specific teaching responsibilities
Director, Third-Year Clerkship in Pediatrics for the UCLA-affiliated hospitals, 1985-95
Director, 4th-Year Subinternship in Pediatrics at
UCLA Center for Health Sciences, 1985-1995
Clinical endocrinology to fellows, housestaff, medical students, and international observers at UCLA, 1982-2001
Core lectures in pediatric endocrinology to medical students at UCLA, 1982-2001
Organizer of weekly divisional education program at CHLA (journal club, CPCs, internal speakers, and visiting professors), 2002-2017


X
  • Thomas Carpenter, USA
Affiliation
Yale University School of Medicine
Session
[Morning Satellite Symposium] Oct. 7, 2022 (Fri.) 07:00-07:50 (Kyowa Kirin Asia Pacific)
Topic
Crysvita - Changing the Treatment Paradigm for Pediatric XLH
Biography
Education:
1973 B.A. University of Virginia - with distinction
1977 M.D. University of Alabama Medical School

Postdoctoral Training:
Internship and Residencies:
1977-1978 Intern in Pediatrics, Children's Hosp., Univ. of Ala., Birmingham
1978-1980 Resident in Pediatrics, Children's Hosp., Univ. of Ala., Birmingham
Fellowship:
1980-1983 Fellow in Medicine (Endocrinology), Children's Hospital, Boston, MA
and Research Fellow in Pediatrics, Harvard Medical School, Boston

Licensure and Certification:
1978 Alabama Medical License
1980 Massachusetts Medical License
1982 American Board of Pediatrics
1983 American Board of Pediatrics - Subspecialty in Endocrinology
1986 Connecticut Medical License
1999 American Board of Pediatrics/Endocrinology: Recertification (voluntary)

Membership in Professional Organizations:
American Pediatric Society
American Society for Bone and Mineral Research
Endocrine Society
Pediatric Endocrine Society
Society for Pediatric Research

Editorial Boards:
1988-1995 Magnesium Research
1997-2004 Current Opinion in Pediatrics
2001-2004 Journal of Clinical Endocrinology and Metabolism
2010-2015 Journal of Bone and Mineral Research
2018- Associate Editor, Journal of Bone and Mineral Research

Academic Appointments:
1983-1986 Instructor in Pediatrics, Harvard Medical School, Boston, MA
1986-1991 Assist. Professor, Pediatrics, Yale U. School of Medicine, New Haven, CT
1991-2000 Associate Professor of Pediatrics, Yale University School of Medicine
2000- Professor of Pediatrics, Yale University School of Medicine
2007-2014 Clinical Professor, Yale University School of Nursing
2008- Professor of Orthopaedics and Rehabilitation, Yale University School of
Medicine

Hospital Appointments:
1983-1986 Assistant in Medicine (Endocrinology), Children's Hospital, Boston, MA
1986- Attending Physician (Pediatrics), Yale-New Haven Hospital, New Haven, CT

Awards and Honors:
1973 Bachelor of Arts with Distinction, University of Virginia
1982 Endocrine Research Award Fellowship, Harvard Medical School
1992 Visiting Professor, Dalhousie Univ. Med. Sch., Halifax, Nova Scotia
1993, 2018 Constantine Anast Lecturer, Harvard Medical School, Boston
1994 Hulda Wohltmann Lecturer, Med. Univ. of S. Carolina, Charleston
1994-2018 Named in Best Doctors in America
1996 Kroc Foundation Visiting Professor, Univ. of Ok Health Sciences Center,
Oklahoma City
1999-2018 Invited Speaker: Endocrine Society, Pediatric Academic Societies, American
Society for Bone and Mineral Research (ASBMR)
2001-2 Chair, Endocrinology Sub-board, American Board of Pediatrics
2003-14 Named in Top Doctors: New York Metro Area
2003 Named to Endocrine and Metabolic Drugs Advisory Committee of the US FDA
2004-11 Named as one of “America’s Top Pediatricians”
2005-10 Named as one of New York Magazine’s “Best Doctors in New York
2006 12th annual Jud Van Wyk Lecturer, Univ. No. Carolina Sch. of Med, Chapel Hill
2006 Pfizer/Endocrine Society International Award for Excellence in Published Clinical
Research in The Journal of Clinical Endocrinology & Metabolism
2006 George Lowry Lecturer, University of Michigan Medical School, Ann Arbor
2010 Annual Visiting Professorship in Pedi. Endo., Hosp. for Sick Children, Toronto
2011 Elected to Membership: Connecticut Academy of Science and Engineering
2011 Invited Speaker: Society for Endocrinology (Birmingham, UK) and Japanese
Society for Bone and Mineral Research (Osaka, Japan)
2011-12 Named to US News and World Reports “Top Doctors”
2012- Named in “Who’s Who in America”
2012 Invited Speaker: 6th International Conference on Osteoporosis and Bone
Research, Xi’An, China; FGF23 Symposium, Beijing Children’s Hospital;
Endocrine Grand Rounds, Brigham and Women’s Hospital, Boston
2013 Invited Speaker: Sanford Burnham Rare Diseases Symposium, La Jolla;Visiting
Professor, Univ. of Cincinnati; Univ. of Oklahoma Health Sciences Center
2013 Most Outstanding Clinical Abstract Award, Am. Society for Bone and Mineral
Research
2014 Invited Symposium Speaker: Society for Endocrinology (Liverpool, UK);
Endocrine Society (Chicago); Invited Speaker: Endocrine Grand Rounds, Mass.
General Hosp., Boston
2014 Global Genes RARE Diseases Champion of Hope Award (Medical Caregiver for
X-linked Hypophosphatemia)
2015 Invited Speaker: Advances in Mineral Metabolism meeting, Snowmass,
Colorado
2015 Invited Symposium Speaker: 7th Internat. Conf. on Children’s Bone Health:
Salzburg, Austria
2016 Invited Speaker: NIH (NICHD, Development Endocrine Branch and NICDR);
International Symposium on X-Linked Hypophosphatemia, Paris (Keynote
lecture); European Society for Pediatric Endocrinology, Paris.
2018 John Haddad Lecturer, University of Pennsylvania School of Medicine.
2019 Alvin B. Hayles Visiting Professor, Mayo Clinic, Rochester, Minn.
2019 Named as Fellow, American Society of Bone and Mineral Research
2020 American Society of Bone and Mineral Research Pediatric Working Group 2nd
Annual Award for Contributions to Bone Health
2022 Yale University School of Medicine, Distinguished Clinical Career Award

Teaching Experience:
1980 Lecturer in pathophysiology, Massachusetts College of Pharmacy
(Undergraduate and graduate curricula)
1982-1984 Lecturer in Medical Biochemistry, Harvard-MIT Program in Health Sciences and
Technology
1983-1985 Lecturer in Connective and Mineralized Tissue, Department of Oral Biology,
Harvard Dental School
1980-1986 Clinical Teaching, Children's Hospital, Boston, MA
1987-1989 Thesis advisor for medical student, Yale Medical School: 25-Hydroxyvitamin D1alpha-Hydroxylase Stimulation by Parathyroid Hormone-like Peptide (A.T.
Walker, honors thesis award)
1988- Endocrine Module Instructor, 2nd Year Medical Class, Yale School of Medicine
1990-1993 Thesis advisor for medical student, Yale Medical School: Effects of Ischemia
and Reperfusion on Mitochondrial Phosphate Uptake in Rat Renal Proximal
Tubules (Samer Najjar)
2005-2009 Thesis advisor/co-mentor for Ph.D candidate in the Department of Genetics
(Catherine Mendenhall Brownstein)

Principal Service Responsibilities:
1983-1986 Attending Physician, Medical Service, Children's Hospital, Boston, MA
1983-1986 Attending Physician, Endocrine Unit and Clinic, Children's Hospital, Boston
1986- Attending Physician (Pediatrics), Yale-New Haven Hospital, New Haven, CT
1988-2006 Internship Selection Committee, Department of Pediatrics, Yale Univ. School of
Medicine and Yale-New Haven Hospital
1989-2009 Director, Pediatric Endocrine Fellowship Training Program, Yale University
School of Medicine, Yale-New Haven Hospital
1991-1998 Pediatric Grand Rounds Coordinator, Yale Univ. School of Medicine
1999-2005 Co-Director, Residency and Fellowship Medical Ethics Seminar Series
2001, 2008-9 Acting Chief, Endocrine Section, Yale Univ. Dept. of Pediatrics
2001-2003 Yale University Conflict of Interest Committee
2001-2008 Research Subject Advocate, Yale School of Med., Clinical Research Center
2001- Chair, Pediatric Clinical Research Protocol Review Committee
2002-2008 Co-Chair, Pediatric Ethics Committee, Yale-New Haven Hospital
2003-2014 Ethics Committee, Yale-New Haven Hospital
2006-2008 Term Appointments and Promotions Committee, Yale Univ. Sch. of Medicine
2009- Medical Director, Hospital Research Unit of the Yale Center for Clinical
Investigation
2013- Chair, Department of Pediatrics Appointments and Promotions Committee, Yale
Univ. Sch. of Medicine

National Service:
1991, 1993,
1999, 2005, Instructor, Lawson Wilkins Pediatric Endocrinology Society Pediatric
2007, 2012 Endocrinology Review Course
1994 Chair, Pediatric Bone and Mineral Working Group, ASBMR
1995-2005 Ad Hoc Reviewer, Veterans Administration, Medical Research Council of Great
Britain, Medical Research Council of Canada
1996 Appointed to Pediatric Endocrinology Sub-board, Am. Bd. of Pediatrics
1999-2004 Medical Advisory Board, Charles H. Hood Foundation, Boston
1999, 2008 Reviewer/site visitor, Developmental Endocrinology Branch Intramural Program,
NICHD
2001-4 Member, Data Safety and Monitoring Board for Study of Alendronate in Children
with Osteogenesis Imperfecta (Merck)
2003-2018 NIH Reviewer, Ad Hoc Study Sections
2003-2007 Endocrine and Metabolic Drugs Advisory Committee, US FDA
2004-6 Chair, Data Safety and Monitoring Board for NIH-sponsored study: The Effect of
Vitamin D and Calcium on Bone in HIV-infected Children and Adolescents (Dr.
Stephen Arpadi, PI)
2005- Scientific Advisory Board, The XLH-Network
2007, 2013 Expert Panelist, Internat. Clin. Densitometry Soc. Pedi.Task Force Conference
2007 Scientific Advisory Committee, 4th Int. Conf. on Children’s Bone Health, Montreal
2008-2017 Member, Data Safety and Monitoring Board for Study of Enzyme Replacement
Therapy in Hypophosphatasia (Enobia/Alexion)
2010 Panelist, NIH Consensus Development Conference on Lactose Intolerance and
Health
2013 Ad hoc member, Endocrine and Metabolic Drugs Advisory Committee, US FDA
2011- Scientific Advisory Board, Fibrous Dysplasia Foundation
2012- Scientific Advisory Board, Soft Bones Foundation
2016- Scientific Advisory Board, Rare Bone Disease Alliance
2022-2023 President-Elect, Pediatric Endocrine Society

BIBLIOGRAPHY

Original Articles
1. Carpenter TO: Basic pediatrics: a new American physician in an African village hospital. South
Med J 72:209-214, 1979.
2. Carpenter TO, Carnes DL, Anast CS: Hypoparathyroidism in Wilson's disease. N Engl J Med
309:873-877, 1983.
3. Cole DEC, Carpenter TO, Gundberg CM: Serum osteocalcin levels in children with metabolic
bone disease. J Pediatr 106:770-776, 1985.
4. Carpenter TO, Levy HL, Holtrop ME, Shih VE, Anast CS: Lysinuric protein intolerance presenting
as juvenile osteoporosis: clinical and skeletal response to citrulline therapy. N Engl J Med
312:290-294, 1985.
5. Harris Jr HW, Carpenter TO, Shanley P, Rosen S, Levey RH, Harmon WE: A progressive
tubulointerstitial renal disease in infancy with associated hepatic abnormalities: a report of
clinical, biochemical and pathologic findings in two cases. Am J Med 81:169-176, 1986.
6. Carpenter TO, Lebowitz RL, Nelson D, Bauer S: Hereditary xanthinuria presenting in infancy with
nephrolithiasis. J Pediatr 109:307-309, 1986.
7. Cole DEC, Carpenter TO: Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus and
distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr 110:76-
80, 1987.
8. Carpenter TO, Carnes DL, Anast CS: Effect of magnesium depletion upon metabolism of 25-
hydroxyvitamin D in rats. Am J Physiol 253 (Endocrinol Metab 16):E106-E113, 1987.
9. Carpenter TO, Pettifor JM, Russell RM, Pitha J, Mobarhan S, Ossip MS, Wainer S, Anast CS.
Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinol intake. J Pediatr
111:507-512, 1987.
10. Carpenter TO, Pendrak ML, Anast CS: Metabolism of 25-hydroxyvitamin D in the copper-laden
rat: a model of Wilson's disease. Am J Physiol 254 (Endocrinol Metab 17): E150-E154, 1988.
11. Carpenter TO: Disturbances of vitamin D metabolism and action during clinical and experimental
magnesium deficiency. Magnesium Research 1:131-139, 1988.
12. Carpenter TO: Mineral regulation of vitamin D metabolism. Bone and Mineral 5:259-269, 1989.
13. Chen C, Carpenter TO, Steg N, Baron R, Anast CS: Hypercalciuric hypophosphatemic rickets:
mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.
Pediatrics 84:276-280, 1989.
14. Cooper SG, Richman AH, Carpenter TO, Rosenfield AT: Scrotal ultrasonography in Leydig cell
hyperplasia. J Ultrasound Med 8:689-692, 1989.
15. New England Congenital Hypothyroidism Collaborative: Elementary school performance of
children with congenital hypothyroidism. J Pediatr 116:27-33, 1990.
16. Carpenter TO, Insogna KI, Boulware SD, Mitnick MA: Vitamin D metabolism in chronic childhood
hypoparathyroidism: evidence for a direct regulatory effect of calcium. J Pediatr 116:252-257,
1990.
17. Walker AT, Stewart AF, Korn EA, Shiratori T, Mitnick MA, Carpenter TO: Effect of parathyroid
hormone-like peptides on 25-hydroxyvitamin D-1"-hydroxylase activity in rodents. Am J Physiol
258 (Endocrinol Metab 21):E297-E303, 1990.
18. Carpenter TO, Imperato-McGinley J, Boulware SD, Weiss R, Shackleton C, Griffen JE, Wilson
JD: Variable expression of 5 -reductase deficiency: presentation with male phenotype in a child
of Greek origin. J Clin Endocrinol Metab 71:318-322, 1990.
19. Carpenter TO, Shiratori T: Renal 25-hydroxyvitamin D-1 -hydroxylase activity and mitochondrial
phosphate transport in Hyp mouse. Am J Physiol 259 (Endocrinol Metab 22):E814-E821, 1990.
20. Caprio S, Boulware S, Diamond M, Sherwin RS, Rubin K, Carpenter TO, Amiel S, Press CM,
Tamborlane WV: Insulin resistance: an early metabolic defect of Turner syndrome. J Clin
Endocrinol Metab 72:832-836, 1991.
21. Caprio S, Boulware SD, Press M. Sherwin RS, Rubin K, Carpenter TO, Plewe G, Tamborlane
WM. Effect of growth hormone treatment on hyperinsulinemia associated with Turner syndrome.
J Pediatr 120:238-243, 1992.
22. Irie T, Fukuanga K, Garwood MK, Carpenter TO, Pitha J, Pitha J: Hydroxypropylcyclodextrins in
parenteral use. II: effects on transport and disposition of lipids in rabbit and humans. J Pharm Sci
81:524-528, 1992.
23. Carpenter TO, McPhee DM, Bort R, Mitnick MA, Carnes DL: Dissociation of phosphaturia and
25-hydroxyvitamin D-1alpha-hydroxylase trophism using a novel analogue of parathyroid
hormone. Am J Physiol 262 (Endocrinol Metab 25): E483-E487, 1992.
24. Gundberg CM, Clough ME, Carpenter TO: A radioimmunoassay for mouse osteocalcin:
development validation and application in the Hyp mouse. Endocrinology 130:1909-1915, 1992.
25. Carpenter TO, Mackowiak SJ, Troiano N, Gundberg CM: Osteocalcin and its message:
relationship to bone histology in the magnesium-deprived rat. Am J Physiol 263 (Endocrinol
Metab 26): E107-114, 1992.
26. Sullivan W, Carpenter TO, Glorieux F, Travers R, Insogna K. A prospective trial of phosphate
and 1,25-dihydroxyvitamin D3 therapy on symptomatic adults with X-linked hypophosphatemic
rickets. J Clin Endocrinol Metab 75:879-885, 1992.
27. Carpenter TO, Mitnick MA, Smith C, Ellison A, Insogna KL. Nocturnal hyperparathyroidism: a
frequent feature of X-linked hypophosphatemia. J Clin Endocrinol Metab 78:1378-1383,1994.
28. Korn EA, Gaich G, Brines M, Carpenter TO. Thyrotropin-secreting adenoma in an adolescent girl
without increased serum TSH-alpha. Hormone Research 42:120-123, 1994.
29. Carpenter TO, Gerloczy A, Pitha J. Safety of parenteral hydroxypropyl beta-cyclodextrin. J
Pharm Sci 84:222-225, 1995.
30. Korn EA, Van Hoff J, Buckley P, Daughaday WH, Carpenter TO. Secretion of a large molecularweight form of insulin-like growth factor II by a primary renal tumor. Med Pediatr Oncol 24:392-
396, 1995.
31. Boydstun I, Najjar S, Kashgarian M, Carpenter T, Siegel N. Postischemic thyroxin stimulates
renal mitochondrial adenine nucleotide translocator activity. Am J Physiol 268 (Renal Fluid
Electrolyte Physiol 37): F651-F656, 1995.
32. Carpenter TO, Ellis B. Media calcium attenuates mitochondrial 1,25(OH)2D production in
phosphorous or vitamin-D deprived rats. Pediatric Res 37:726-730, 1995.
33. Carpenter TO, Keller M, Schwartz D, Mitnick M, Smith C, Ellison A, Carey D, Comite F, Horst R,
Travers R, Glorieux FH, Gundberg CM, Poole AR, Insogna KL. 24,25 Dihydroxyvitamin D
supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked
hypophosphatemic rickets -- a clinical research center study. J Clin Endocrinol Metab 81: 2381-
2388, 1996.
34. Carpenter TO, Gundberg CM. Osteocalcin abnormalities in Hyp mice reflect altered genetic
expression and are not due to altered clearance, affinity for mineral, or ambient phosphorus
levels. Endocrinology 137:5213-5219, 1996.
35. Nehgme R, Fahey JT, Smith C, Carpenter TO. Cardiovascular abnormalities in patients with Xlinked hypophosphatemia. J Clin Endocrinol Metab 82:2450-2454, 1997.
36. Bentsen D, Schwartz DS, Carpenter TO. Sonography of congenital adrenal hyperplasia due to
partial deficiency of 3β-hydroxysteroid dehydrogenase: a case report. Pediatr Radiol 27: 594-
595, 1997.
37. Carpenter TO: New perspectives on the biology and treatment of X-linked hypophosphatemic
rickets. Pediatr Clin North Am 44:443-466, 1997.
38. Kerstetter JE, Caseria DM, Mitnick ME, Ellison AF, Gay LF, Liskov TAP, Carpenter TO, Insogna
KL. Increased circulating concentrations of parathyroid hormone in healthy, young women
consuming a protein-restricted diet. Am J Clin Nutr 66: 1188-1196, 1997.
39. Condulis N, Germain G, Charest N, Levy S, Carpenter TO: Pseudotumor cerebri: a presenting
manifestation of Addison’s disease. Clinical Pediatr 36:711-714, 1997.
40. Carpenter TO, Moltz KC, Ellis B, Andreoli M, McCarthy TL, Centrella M, Bryan D, Gundberg CM.
Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice.
Endocrinology 139:35-43, 1998.
41. Cohen C, Rice EN, Thomas DET, Carpenter TO. Diabetes insipidus as a hallmark
neuroendocrine complication of neonatal meningitis. Curr Opin Pediatr 10:449-452, 1998.
42. Cherniske EM, Sadler LS, Schwartz D, Carpenter TO, Pober BR. Early puberty in Williams
syndrome. Clin Dysmorphol 8:117-121, 1999.
43. Paul E, Van Why S, Carpenter TO. Hyperthyroidism: a novel feature of the tubulointerstitial
nephritis and uveitis syndrome. Pediatrics 104:314-317, 1999.
44. Levine B, Carpenter TO. Evaluation and treatment of heritable forms of rickets. The
Endocrinologist 9:358-365, 1999.
45. Kerstetter JE. Mitnick ME. Gundberg CM. Caseria DM. Ellison AF. Carpenter TO. Insogna KL.
Changes in bone turnover in young women consuming different levels of dietary protein. J Clin
Endocrinol Metab 84:1052-1055, 1999.
46. Reyes-Mugica M, Arnsmeier SL, Backeljauw PF, Persing J, Ellis B, Carpenter TO. Phosphaturic
mesenchymal tumor-induced rickets. Pediatr Development Pathol 3:61-69, 2000.
47. Reeves GD, Bachrach S, Carpenter TO, Mackenzie WG. Vitamin D-deficiency rickets in adopted
children from the former Soviet Union: an uncommon problem with unusual clinical and
biochemical features. Pediatrics 106: 1484-1488, 2000.
48. Jones AO, Tzenova J, Frappier D, Crumley MJ, Roslin NM, Kos CH, Tieder M, Langman CB,
Proesmans W, Carpenter TO, Rice A, Anderson D, Morgan K, Fujiwara TM, Tenenhouse HS.
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi
cotransporter NPT2 gene. J Am Soc Nephrol 12:507-514, 2001.
49. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO. Mutational
analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic
rickets. J Clin Endocrinol Metab 86:3889-3899, 2001.
50. Moltz KC, Friedman AH, Nehgme RA, Kleinman CS, Carpenter TO. Ectopic cardiac calcification
associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Curr Opin Pediatr
13: 373-375, 2001.
51. DeLucia MC, Mitnick ME, Carpenter TO. Nutritional rickets with normal circulating 25-
hydroxyvitamin D: a call for re-examining the role of dietary calcium intake in North American
children. J Clin Endocrinol Metab 88:3539-3545, 2003.
52. Yusuf K, Reyes-Mugica M, Carpenter TO. Insular carcinoma of the thyroid in an adolescent: a
case report and review of the literature. Curr Opin Pediatr 15:512-515, 2003.
53. Gordon CM, Bachrach LK, Carpenter TO, Karsenty G, Rauch F. Bone health in children and
adolescents. Curr Probl Pediatr Adolesc Health Care 34:221-248, 2004.
54. Cherniske E, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober, BR.
Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet, 131A:255-264,
2004.
55. Carpenter TO, Ellis BK, Insogna KL, Philbrick WM, Sterpka J, Shimkets R. FGF7 – an inhibitor of
phosphate transport derived from oncogenic osteomalacia-causing tumors. J Clin Endocrinol
Metab 90:1012–1020, 2005. Finalist, Endocrine Society/Pfizer Award for Excellence in
Clinical Research
56. Sabbagh Y, Carpenter TO, Demay M. Hypophosphatemia leads to rickets by impairing caspasemediated apoptosis of hypertrophic chondrocytes. PNAS USA 102: 9637-9642, 2005.
57. Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships
among vitamin D levels, PTH, and calcium absorption in young adolescents. J Clin Endocrinol
Metab 90: 5576–5581, 2005.
58. Klein GL, Fitzpatrick LA, Langman CB, Beck TJ, Carpenter TO, Gilsanz V, Holm IA, Leonard MB,
Specker BL. The state of pediatric bone: summary of the ASBMR pediatric bone initiative. J Bone
Miner Res 20:2075-2081, 2005.
59. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Carpenter TO,
Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan KN, Tenenhouse HS, Jüppner H.
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria
(HHRH) predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining
phosphate homeostasis and skeletal function. Am J Hum Gen 78: 179-192, 2006.
60. Kelly TG, Shattuck TM, Reyes-Mugica M, Stewart AF, Simonds WF, Udelsman R, Arnold A,
Carpenter TO. Surveillance for early detection of aggressive parathyroid disease: carcinoma and
atypical adenoma in Familial Isolated Hyperparathyroidism associated with a germline HRPT2
mutation. J Bone Min Res 21:1666-1671, 2006.
61. Carpenter TO, DeLucia MC, Zhang JH, Bejnerowicz,G, Tartamella L, Dziura J, Petersen KF,
Befroy D, Cohen D. A randomized, controlled study of effects of dietary magnesium oxide
supplementation on bone mineral content in healthy girls. J Clin Endocrinol Metab 91:4866-4872,
2006.
62. Demay MB, Sabbagh Y, Carpenter TO. Calcium and vitamin D: What is known about the effects
on growing bone. Pediatrics 119 (Suppl 2):S141-S144, 2007.
63. Ardeshirpour L, Cole DEC, Carpenter TO. Evaluation of bone and mineral disorders. Pediatr
Endocrinol Revs 5 (Suppl 1): 584-598, 2007.
64. Cohen P, Rogol A, Howard CP, Bright GM, KappelgaardA-M, Rosenfeld RG, American
Norditropin Study Group. Insulin Growth Factor-based dosing of growth hormone therapy in
children: a randomized, controlled study. J Clin Endocrinol Metab 92: 2480-2486, 2007.
65. Brownstein CA, Adler F, Nelson-Williams C, Iijma J, Imura A, Nabehsima Y, Carpenter TO*, Lifton
RP*. A translocation causing increased α–Klotho level results in hypophosphatemic rickets and
hyperparathyroidism. PNAS USA, 105:3455-3460, 2008. *co-senior authors
66. Gordon CM, Bachrach LK, Carpenter TO, Crabtree N, El-Hajj Fuleihan G, Kutilek S, Lorenc RS,
Tosi LL, Ward KA, Ward LM, Kalkwarf HJ. Dual energy X-ray absorptiometry interpretation and
reporting in children and adolescents: the 2007 ISCD pediatric official positions. J Clin Densitom
11: 43-58, 2008.
67. Jaureguiberry G, Carpenter TO, Forman S, Jueppner H, Bergwitz C. A novel missense mutation
in SLC34A3 that causes HHRH identifies threonine 137 as an important determinant of sodiumphosphate co-transport in NaPi-IIc. Am J Physiol 295: F371-F379, 2008.
68. Boskey A, Frank A, Fujimoto Y, Spevak L, Verdelis K, Ellis B, Philbrick W, Carpenter T. The
PHEX transgene corrects mineralization defects in 9-month-old hypophosphatemic mice. Calcif
Tiss Int 84: 126-137, 2009.
69. Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the enthesopathy of Xlinked hypophosphatemia and its characterization in Hyp mice. Calcif Tiss Int 85:235-46, 2009.
70. Shenoy A, Esquibies AE, Dunbar N, Bishop MK, Reyes-Mugica M, Langston C, Deladoey J, AbuKhudir R, Carpenter TO, Bazzy-Asaad A. A novel presentation of diffuse lung disease secondary
to congenital hypothyroidism. J Pediatr 155:593-595, 2009.
71. Brownstein C, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP*,
Carpenter TO*. Increased bone volume and correction of HYP mouse hypophosphatemia in the
Klotho/HYP mouse. Endocrinology 151: 492-501, 2010. *co-senior authors
72. Xiao L, Naganawa T, Lorenzo J, Carpenter TO, Coffin JD, Hurley MM. Nuclear isoforms of
fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and
Klotho. J Biol Chem 285:2843-2846, 2010.
73. Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of XLH with calcitriol and
phosphate increases circulating FGF23 concentrations. J Clin Endocrinol Metab 95:1846-50,
2010.
74. Suchy FJ, Brannon PM, Carpenter TO, Fernandez JR, Gilsanz V, Gould JB, Hall K, Hui SL,
Lupton J, Mennella J, Miller N, Osganian SK, Sellmeyer DE, Wolf MA. National Institutes of Health
Consensus Development Conference: Lactose intolerance and health. Ann Int Med 152:792-796,
2010.
75. Cohen P, Germak J, Rogol AD, Weng W, Kappelgaard AM, Rosenfeld RG, American Norditropin
Study Group. Variable degree of growth hormone (GH) and insulin-like growth factor (IGF)
sensitivity in children with idiopathic short stature compared with GH-deficient patients: evidence
from an IGF-based dosing study of short children. J Clin Endocrinol Metab 95:2089-2098, 2010.
76. Brannon PM, Carpenter TO, Fernandez JR, Gilsanz V, Gould JB, Hall KE, Hui SL, Lupton JR,
Mennella J, Miller NJ, Osganian SK, Sellmeyer DE, Suchy FJ, Wolf MA. NIH Consensus
Development Conference Statement: Lactose Intolerance and Health. NIH Consens State Sci
Statements. 2010 Feb 24;27(2).
77. Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM.
Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance,
effects of treatment and relationship to parathyroid status. J Clin Endocrinol Metab 95:E352-357,
2010.
78. Vanstone M, Udelsman R, Cheng D, Carpenter TO. Rapid correction of bone mass after
parathyroidectomy in an adolescent with primary hyperparathyroidism. J Clin Endocrinol Metab
96:E347-350, 2011.
79. Liu ES, Carpenter TO, Gundberg CM, Simpson C, Insogna KL. Calcitonin administration in Xlinked hypophosphatemia. New Engl J Med 364:1678-1680, 2011.
80. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked
hypophosphatemia. J Bone Min Res. 26:1381-1388, 2011.
81. Seger RL, Cross RA, Rosen CJ, Causey RC, Gundberg CM, Carpenter TO, Chen TC, Halteman
WA, Holick MF, Jakubas WJ, Keisler DH, Seger RM, Servello FA. Investigating the mechanism for
maintaining eucalcemia despite immobility and anuria in the hibernating American black bear
(Ursus americanus). Bone 49: 1205-1212, 2011.
82. Nakhla M, Denker AE, Connor JD, Carpenter TO, Walson PD, Porras AG, Matthews CZ, Larson
P, Freeman A, Wagner JA, Ward LM. Bioavailability and short-term tolerability of alendronate in
glucocorticoid-treated children. Clin Ther 33: 1516-1523, 2011.
83. Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M,
Held N, Cole DEC. Demographic, dietary, and biochemical determinants of vitamin D status in
inner-city children. Am J Clin Nutr 95:137-146, 2012.
84. Dauber A, Nguyen TT, Sochett E, Cole DEC, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN.
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene in a patient with severe infantile
hypercalcemia. J Clin Endocrinol Metab 97:E268-274, 2012.
85. Vanstone MS, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in children
receiving pharmacologic doses of vitamin D. Pediatrics 129(4):1060-3, 2012.
86. Carpenter TO. The expanding family of hypophosphatemic syndromes. J Bone Min Metab 30:1-9,
2012.
87. Abrams SA, Hawthorne KM, Rogers SP, Hicks PD, Carpenter TO. Effects of ethnicity and vitamin
D supplementation on vitamin D status and changes in bone mineral content in infants
BMC Pediatrics 12:6, 2012. http://www.biomedcentral.com/1471-2431/12/6
88. Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong BY-L, Cole
DEC. Vitamin D Binding Protein is a key determinant of 25-hydroxyvitamin D levels in infants and
toddlers. J Bone Miner Res 28:213-21, 2013.
89. Sun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart failure in hypophosphatemic rickets:
complications from high-dose phosphate therapy. Endocr Practice 2012 Nov 27:1-12.
90. Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R.
Exome sequencing reveals FAM20c mutations associated with FGF23-related
hypophosphatemia, dental anomalies and ectopic calcification. J Bone Miner Res 28:1378-1385,
2013.
91. Gattu AK, Swenson ES, Iwakiri Y, Samuel VT, Berry R, Church C, Rodeheffer MS, Carpenter TO,
Chung C. Determination of mesenchymal stem cell fate by Pigment Epithelium-Derived
Factor (PEDF) results in increased adiposity & reduced bone mineral content. FASEB J. 27:4384-
4394, 2013.
92. Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T,
Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 Antibody
KRN23 in X-linked Hypophosphatemia. J Clin Invest 124:1587-1597, 2014.
93. Canales BK, Shafer AL, Shoback DM, Carpenter TO. Gastric bypass in obese rats causes bone
loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY. Surg Obesity Rel
Diseases. Surg Obes Relat Dis 10:878-884, 2014.
94. Dasgupta D, Wee M, Reyes M, LiY, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A,
Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Carpenter TO,
Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Jüppner H, Bergwitz C. Increased
frequency of renal stones and nephrocalcinosis in patients with Hereditary Hypophosphatemic
Rickets with Hypercalciuria (HHRH) and their heterozygous relatives. J Am Soc Nephrol 25:2366-
2375, 2014.
95. Navas-Nazario A, Li FY, Northrup V, Weiss P, Cole DEC, Carpenter TO, Bazzy-Asaad A. Effect of
vitamin D binding protein (DBP) genotype on the development of asthma in children. Ann Allergy
Asthma Immunol 112:519-524, 2014.
96. Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Rubin BY. A
founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
Clin Genet 88(1) 74-9, 2015
97. Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL.
Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a
randomized, double-blind, placebo-controlled study. J Clin Endocrinol Metab 99: 3103-3111,
2014.
98. Sharkey MS, Grunseich K, Carpenter TO. Contemporary medical and surgical management of Xlinked hypophosphatemic rickets. J Am Acad Orthopaed Surg 23:433-442, 2015.
99. Vanstone MB, Egan ME, Zhang JH, Carpenter TO. Association between serum 25-hydroxyvitamin
D level and pulmonary exacerbations in cystic fibrosis. Pediatr Pulmonol 50:441-446, 2015.
100. Goldsweig BK, Carpenter TO. Hypophosphatemic rickets: Lessons from disrupted FGF23 control
of phosphorus homeostasis. Curr Osteoporos Rep 13:88-97, 2015.
101. Imel EA, Zhang X, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux
FH, Portale AA, Insogna KL, Peacock M, Carpenter TO. Prolonged correction of serum
phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23. J Clin
Endocrinol Metab 100:2565-2573, 2015.
102. Zhang X, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey J, Glorieux
FH, Portale AA, Insogna K, Carpenter TO, Peacock M. Pharmacokinetics and pharmacodynamics
of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial
treating adults with X-linked hypophosphatemia. J Clin Pharmacol 56(2):176-85, 2016.
103. Connor J, Olear EA, Insogna KL, Katz L, Baker SD, Kaur RD, Simpson CA, Sterpka J, Dubrow R,
Zhang JH, Carpenter TO. Conventional therapy in adults with X-linked hypophosphatemia: effects
on enthesopathy and dental disease. J Clin Endocrinol Metab 100:3625-3632, 2015.
104. Zhang X, Peyret T, Gosselin NH, Marier JF, Imel EA, Carpenter TO. Population pharmacokinetic
and pharmacodynamic analyses from a 4-month intra-dose escalation and its subsequent 12-
month dose titration studies for a human monoclonal anti-FGF23 antibody (KRN23) in adults with
X-linked hypophosphatemia. J Clin Pharmacol 56(4):429-38, 2016.
105. Fu L, Borges CR, Rehder DS, Wong BYL, Williams R, Carpenter TO, Cole DEC. Characterization
of additional vitamin D binding protein variants. J Steroid Biochem Mol Biol. 159: 54-59, 2016.
106. Abou Zahr R, Faustino V, Carpenter T, Fahey J, Kirshbom P, Hall EK. Vitamin D status after
cardiopulmonary bypass in children with congenital heart disease. J Intensiv Care Med 32:508-
513, 2017.
107. Belinsky GS, Sreekumar B, Andrejecsk JW, Saltzman WM, Gong J, Herzog RI, Lin S, Horsley V,
Carpenter TO, Chung C. Pigment epithelium-derived factor restoration increases bone mass and
improves bone plasticity in a model of osteogenesis imperfecta type VI. FASEB J 30:2837, 2016.
108. Ruppe MD, Zhang X, Imel EA, Weber TJ, Klausner MA, Ito T, Vergeire M, Humphrey JS, Glorieux
FH, Portale AA, Insogna K, Peacock M, Carpenter TO. Effect of four monthly doses of a human
monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. Bone
Reports 5:158-162, 2016.
109. Lee J-C, Su S-Y, Changou CA, Yang R-S, Tsai K-S, Collins MT, Orwoll ES, Lin C-Y, Chen S-H,
Shih S-R Lee C-H, Oda Y, Billings SD, Li C-F, Nielsen GP, Konishi E, Petersson F, Carpenter TO,
Huang H-Y, Folpe AL. Comprehensive characterization of FN1-FGFR1 and novel FN1-FGF1
fusion genes in a large series of phosphaturic mesenchymal tumors. Modern Pathol 29:1335-
1346, 2016.
110. Pesta D, Tsirigoti DN, Befroy DE, Caballero D, Jurczak M, Rahimi Y, Cline G, Dufour S, Birkenfeld
A, Rothman DL, Carpenter T, Insogna K, Petersen KF, Bergwitz C, Shulman GI.
Hypophosphatemia promotes lower rates of muscle ATP synthesis. FASEB J 2016; 30:3378-
3387.
111. Peter PR, Brownstein CA, Yao G-Q, Olear EA, Simpson CA, Agrawal PB, Carpenter TO, Insogna
KL. An unusual case of rickets and how whole exome sequencing helped to correct a diagnosis.
AACE Clinical Case Rep 2:e278-e283, 2016.
112. Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic
mutations. J Steroid Biochem Mol Biol 173: 337-340, 2017.
113. Gonzalez Ballesteros L, Ma N, Gordon R, Ward L, Backeljauw P, Wasserman H, Weber D,
DiMeglio L, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Swartz Topor L, Agrawal S,
Calabria A, Tebben P, Faircloth R, Imel E, Casey L, Carpenter TO. Unexpected widespread
hypophosphatemia and bone disease associated with elemental formula use in infants and
children. Bone 97:287-292, 2017.
114. Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature Reviews
Disease Primers 3: 17101- 2017
115. Sullivan R, Abraham A, Simpson C, Carpenter T, Deng Y, Chen C, Olear E, Insogna K. Three
month randomized clinical trial of nasal calcitonin in adults with X-linked hypophosphatemia. Calcif
Tissue Int 102(6):666-670, 2018.
116. Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao
M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA. Burosumab therapy in children with
X-linked hypophosphatemia. N Engl J Med;378(21):1987-1998, 2018.
117. Insogna KL, Briot K, Imel, EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont
P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L,
Chen C-Y, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO. A randomized, doubleblind, placebo-controlled, phase 3 trial evaluating the efficacy of burosumab, an anti-FGF23
antibody, in adults with X-linked hypophosphatemia: week 24 primary analysis. J Bone Miner Res
33:1383-1393, 2018.
118. Ang K, Sanchez Rangel E, Yuan Q, Wu D, Carpenter TO, Insogna K. Skeletal disease in a father
and daughter with a novel monoallelic WNT1 mutation. Bone Rep 9:154-158, 2018.
119. Whyte MP, Carpenter TO, Gottesman G, Mao M, Skrinar A, San Maetin J, Imel EA. Efficacy and
safety of burosumab in 1-4 year-old children with X-linked hypophosphatemia. Lancet Diabetes
Endocrinol 7:189-199, 2019.
120. Thacher T, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen C-Y, Chang T, San Martin
J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked
hypophosphatemia: utility of the radiographic rickets severity score. Bone 122: 76-81, 2019.
121. Chen A, Ro H, Mundra VRR, Joseph K, Brenner D, Carpenter TO, Rizk DV, Bergwitz C.
Description of five novel SLC34A3/NPT2c mutations causing hereditary hypophosphatemic rickets
with hypercalciuria. Kidney Int Rep 4:1179-1186, 2019. doi:
https://doi.org/10.1016/j.ekir.2019.05.004
122. Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan de
Beur S, Eastell R, Imanishi I, Imel EA, Lachmann R, Perwad F, Pitukcheewanont, Ralston SH,
Takeuchi Y, Tanaka H, Weber TJ, Yoo H-W, Zhang L, Theodore-Oklota C, Mealiffe M, Sa Martin
J, Insogna K. Continued beneficial effects of burosumab in adults with X-linked
hypophosphatemia: results from a 24-week treatment continuation period after a 24-week
double-blind placebo-controlled period. Calcif Tissue Int 105:271-284, 2019.
123. Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High
dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in
female rats. Bone 127:172-180, 2019.
124. Bloomhardt HM, Sint K, Ross WL, Rotatori J, Ness K, Robinson C, Carpenter TO, Chow EJ,
Kadan-Lottick NS. Severity of reduced bone mineral density and risk of fractures in long-term
survivors of childhood leukemia and lymphoma undergoing guideline-recommended surveillance
for bone health. Cancer 126:202-210, 2020.
125. Lee C-H, Su S-Y, Sittampalam K, Chen PC-H, Petersson F, Kao Y-C, Carpenter TO, Hsieh T-H,
Konishi E, Tsai J-W, Billings SD, Folpe AL, Lee J-C. Frequent overexpression of klotho in fusionnegative phosphaturic mesenchymal tumors with tumorigenic implications. Mod Pathol 33:858-
870, 2020.
126. Oheim R, Zimmerman K, Maulding ND, Stürznikel J, von Kroge S, Kavanagh D, Kornak U,
Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO,
Braddock DT. Human heterozygous ENPP1 deficiency induces early onset osteoporosis, a
phenotype recapitulated in a mouse model of Enpp1 deficiency. J Bone Miner Res 35:528-539,
2020.
127. Simpson CA, Zhang JH, Vanderschueren D, Fu L, Pennestri TC, Bouillon R, Cole DEC, Carpenter
TO. Relationship of total and free 25-hydroxyvitamin D to biomarkers and metabolic indices in
healthy children. J Clin Endocrinol Metab 105(4):e1631-40, 2020.
128. Wolf M, Rubin J, Achebe M, Econs MJ, Peacock M, Imel EA, Thomsen LL, Carpenter TO, Weber
T, Brandenburg V, Zoller H. Effects of iron isomaltoside vs ferric carboxymaltoseon
hypophosphatemia in iron-deficiency anemia two randomized clinical trials. JAMA 323: 432-443,
2020.
129. Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel
EA, Gagne J, Cody D, Zimakas P, Swartz Topor L, Agrawal S, Calabria A, Tebben P, Faircloth
RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone
Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After
Formula Change or Phosphate Supplementation. Clin Pediatr (Phila). 59:1080-1085, 2020.
130. Mao M, Carpenter TO, Whyte MP, Skrinar A, Chen CY, San Martin J, Rogol AD. Growth curves for
children with X-linked Hypophosphatemia. J Clin Endocrinol Metab 105: 3243-9, 2020.
131. Maulding ND, Kavanagh D, Zimmerman K, Coppola G, Carpenter TO, Jue NK, Braddock DT.
Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis,
osteomalacia, and paradoxical mineralization. Bone. 2021 Jan;142:115656. doi:
10.1016/j.bone.2020.115656. Epub 2020 Sep 24. PMID: 32980560
132. Bergwitz C, Eussen SRBM, Janssens PLHR, Visser M, Carpenter TO, van Helvoort A. Different
elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy
volunteers. Nutr Res. 85:71-83, 2021.
133. Jan de Beur SM, Miller PD, Weber TJ, Peacock M, Insogna K, Kumar R, Rauch F, Luca D,
Cimms T, Roberts MS, San Martin J, Carpenter TO. Burosumab for the treatment of tumorinduced osteomalacia. J Bone Miner Res 36: 627-635, 2021.
134. Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL,
Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommassini SM, von Kroge S,
Fiedler IAK, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz
MC, Braddock DT. Response of the ENPP1-deficient skeletal phenotype to oral phosphate
supplementation and/or enzyme replacement therapy: Comparative studies in Humans and Mice.
J Bone Miner Res 36(5):942-955, 2021.
135. Choksi I, Cox A, Robinson C, Carpenter TO. Novel homozygous variant in BMP1 associated with
a rare osteogenesis imperfecta phenotype. Osteoporosis Internat 32:1239-1244, 2021.
136. Chande S, Dijk F, Fetene J, Yannicelli S, Carpenter TO, van Helvoort A, Bergwitz C. Phosphorus
bio-accessibility measured in four infant formulas using in vitro batch digestion translates well into
phosphorus bio-availability in mice. Nutrition, 2021 Apr 28;89:111291. doi:
10.1016/j.nut.2021.111291. Online ahead of print.
137. Simpson CA, Zhang JH, Vanderschueren D, Fu L, Pennestri TC, Bouillon R, Cole DEC, Carpenter
TO. 25-OHD response to vitamin D supplementation in children: effect of dose but not GC
haplotype. Eur J Endocrinol 185:333-342, 2021
138. Briot K, Portale AA, Brandi ML, Carpenter TO, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R,
Imanishi Y, Ing S, Insogna K, Ito N, Jan de Beur S, Javaid MK, Kamenicky P, Keen R, Kubota T,
Lachmann RH, Perwad F, Pitukcheewanont P, Ralston SH, Takeushi Y, Tanaka H, Weber TJ,
Yoo H-W, Nixon A, Nixon M, Sun W, Williams A, Imel EA. Burosumab treatment in adults with Xlinked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a
randomised phase 3 trial and open-label extension. RMD Open. 2021 Sep;7(3):e001714. doi:
10.1136/rmdopen-2021-001714. PMID: 34548383
139. LinglartA, Imel EA, Whyte MP, PortaleAA, HöglerW, BootAM, Padidela R, van’t Hoff W, Gottesman
GS, Chen A, Skrinar A, Roberts MS,, Carpenter TO. Sustained efficacy and safety of burosumab, a
monoclonal antibody to FGF23, in children with X-linked hypophosphatemia. J Clin Endocrinol
Metab 107:813-824, 2022.
140. Carpenter TO, Kelly HR, Sherwood JS, Peacock ZS, Nose V. Case 32-2021: A 14-year-old girl with
swelling of the jaw and hypercalcemia. N Engl J Med 385:1604-1613, 2021.
141. Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis
S, Imel EA, Johnson B, Kiel MJ, Krolczk S, Ramesan P, Truty R, Sabbagh Y. Novel PHEX gene
locus-specific database: Comprehensive characterization of vast number of variants associated
with X-Linked Hypophosphatemia (XLH). Human Mutation 43(2):143-157, 2022.
142. Ferreira CR, Ansh AJ, Nester C, O'Brien C, Stabach PR, Murtada SI, Lester ER, Khursigara G,
Molloy L, Carpenter TO, Braddock DT. Musculoskeletal comorbidities and quality of life in ENPP1-
deficient adults and the response of enthesopathy to enzyme replacement therapy in
murine models. J Bone Miner Res 37:494-504, 2022.
143. Zimmerman K, Li X, von Kroge S, Stabach P, Lester ER, Chu EY, Somerman MJ, Tommasin SM,
Busse B, Schinke T, Carpenter TO, Oheim R, Braddock DT. Catalysis-independent ENPP1 protein
signaling regulates mammalian bone mass. J Bone Miner Res., 2022 Jun 30. doi:
10.1002/jbmr.4640. Online ahead of print.

Book Chapters

1. Key LL, Carnes DL, Lian JB, Carpenter TO, Anast CS: 1,25 dihydroxyvitamin D and 25
hydroxyvitamin D normalized growth in prednisolone treated rats, but only 25 hydroxyvitamin D
improved mineralization. Proc. 5th Intnl Workshop on Vitamin D, Williamsburg, VA, 1982.
2. Anast CS, Carpenter TO, Key LL: Rickets. In: Current Therapy in Endocrinology and
Metabolism. DT Krieger and CW Bardin (eds.). Philadelphia: BC Decker Inc. pp 310-314, 1985.
3. Carpenter TO, Carnes DL, Anast CS: Effect of magnesium upon 25-hydroxyvitamin D-1-
hydroxylase activity. In: Vitamin D: Chemical, Biochemical and Clinical Update. AW Norman, K
Schaefer, HG Grigoleit, D Herrath (Eds.). Berlin:Walter de Gruyter & Co. pp 547-548, 1985.
4. Carpenter TO, Mitnick MA, Johnson P, Gundberg CM: Circulating osteocalcin in magnesium
deficiency: response to 1,25(OH)2D3. In: Vitamin D: Molecular, Cellular and Clinical
Endocrinology. AW Norman, K Schaefer, HG Grigoleit, D Herrath (Eds.). Berlin:Walter de Gruyter
& Co. pp 618-619, 1988.
5. Cole DEC, Carpenter TO, Goltzman D: Calcium homeostasis and disorders of bone and mineral
metabolism. In: Pediatric Endocrinology, Comprehensive Endocrinology Series. R. Collu, JR
Ducharme, JH Guyda (Eds.), 2nd edition, New York:Raven Press. pp 509-580, 1989.
6. Siegel NJ, Carpenter TO, Gaudio KM. The pathophysiology of body fluids. In: Principles and
Practice of Pediatrics. FA Oski, C DeAngelis, RD Feigin, JB Warshaw, (eds.). Philadelphia:J.B.
Lippincott Co. pp. 58-77, 1990.
7. Key LL, Carpenter TO: Metabolism of calcium, phosphorus, and other minerals. In: Pediatric
Textbook of Fluids and Electrolytes. I Ichikawa (ed.), Baltimore:Williams and Wilkins, pp 98-106,
1990.
8. Carpenter TO, Key LL: Disorders of the metabolism of calcium, phosphorus, and other minerals.
In: Pediatric Textbook of Fluids and Electrolytes. I Ichikawa (ed.). Baltimore:Williams and Wilkins,
pp 237-268, 1990.
9. Anast CS, Carpenter TO: Disorders of calcium and phosphate in infancy and childhood. In:
Principles and Practices of Endocrinology and Metabolism. Becker K (ed.), Philadelphia:J.B.
Lippincott Co. pp 544-550, 1990.
10. Anast CS, Carpenter TO, Key LL: Metabolic bone disorders in children. In: Metabolic Bone
Disease and Clinically Related Disorders. LV Avioli and SM Krane (eds.), 2nd edition,
Philadelphia:W.B. Saunders. pp 850-887, 1990.
11. Carpenter TO: Neonatal hypocalcemia. In: Primer on the Metabolic Bone Diseases and
Disorders of Mineral Metabolism. Favus MJ (ed.), Richmond:William Byrd Press, pp 139-141,
1990.
12. Carpenter TO: Vitamin D metabolism and phosphate homeostasis: physiology and clinical
application. In: A Current Review of Pediatric Endocrinology 1991. DM Styne (ed.), Norwell,
MA:Serono Symposia USA, pp 137-146, 1991.
13. Carpenter TO: Parathyroid disease. In: Gellis and Kagan's Current Pediatric Therapy 14. Burg
FD, Ingelfinger J, Wald E (eds.), Philadelphia:WB Saunders, 1993, pp 290-292.
14. Carpenter TO: Vitamin D metabolism and phosphate homeostasis: physiology and clinical
application. In: A Current Review of Pediatric Endocrinology 1993. J Bell (ed.), Norwell,
MA:Serono Symposia USA, pp 213-222, 1993.
15. Carpenter TO: Neonatal hypocalcemia. In: Primer on the Metabolic Bone Diseases and
Disorders of Mineral Metabolism (2nd ed). Favus MJ (ed.), New York: Raven Press, pp 207-209,
1993.
16. Siegel NJ, Carpenter TO, Gaudio KM: The pathophysiology of body fluids. In: Principles and
Practice of Pediatrics (2nd ed). FA Oski, C DeAngelis, RD Feigin, JB Warshaw, (eds.),
Philadelphia:J.B. Lippincott. pp 60-79, 1994.
17. Carpenter TO: Disorders of calcium and bone metabolism in infancy and childhood. In: Principles
and Practices of Endocrinology and Metabolism. (2nd ed). Becker K (ed.), Philadelphia: JB
Lippincott, pp 631-638, 1995.
18. Pober B, Carpenter TO: Idiopathic hypercalcemia. In: Gellis and Kagan's Current Pediatric
Therapy 15. Burg FD, Ingelfinger J, Wald E (eds.), Phildelphia: WB Saunders, pp 366-367, 1995.
19. Carpenter TO: Rickets. In: Gellis and Kagan's Current Pediatric Therapy 15. Burg FD, Ingelfinger
J, Wald E (eds.), Phildelphia: WB Saunders, pp 363-367, 1996.
20. Carpenter TO: Neonatal hypocalcemia. In: Primer on the Metabolic Bone Diseases and
Disorders of Mineral Metabolism (3rd ed). Favus MJ (ed.), Philadelphia: Lippincott-Raven, pp
228-230, 1996.
21. Liskov T, Kerstetter J, Baltimore R, Carpenter T: Facts and Myths about Vitamins and Minerals.
In: The Yale Guide to Children’s Nutrition. Tamborlane WV (ed.), New Haven:Yale University
Press, pp 229-239, 1997.
22. Carpenter TO, Insogna KI: The hypocalcemic disorders: differential diagnosis and therapeutic
use of vitamin D. In: Vitamin D . Feldman D, Glorieux F, Pike JW (eds), San Diego: Academic
Press, pp 923-936, 1997.
23. Carpenter TO: Hypocalcemia and tetany. In: Gellis and Kagan's Current Pediatric Therapy 16.
Burg FD, Ingelfinger J, Wald E (eds.), Phildelphia: WB Saunders, pp 777-780, 1999.
24. Carpenter TO: Rickets. In: Gellis and Kagan's Current Pediatric Therapy 16. Burg FD, Ingelfinger
J, Wald E (eds.), Phildelphia: WB Saunders, pp 780-783, 1999.
25. Pober BR, Carpenter TO: Idiopathic Hypercalcemia. In: Gellis and Kagan's Current Pediatric
Therapy 16. Burg FD, Ingelfinger J, Wald E (eds.), Phildelphia: WB Saunders, pp 783-784, 1999.
26. Carpenter TO: Osteopenic syndromes of childhood. In: International Symposium on: A Current
Review of Pediatric Endocrinology . SJ Casella (ed.), Norwell, MA:Serono Symposia USA, pp
187-194, 1999.
27. Carpenter TO: Disorders of calcium homeostasis in childhood. In: International Symposium on: A
Current Review of Pediatric Endocrinology . SJ Casella (ed.), Norwell, MA:Serono Symposia
USA, pp195-204, 1999.
28. Carpenter TO: Neonatal hypocalcemia. In: Primer on the Metabolic Bone Diseases and
Disorders of Mineral Metabolism (4th ed). Favus MJ (ed.), Philadelphia: Lippincott-Raven,
pp235-238, 1999.
29. Carpenter TO: Diagnosis and management of osteopenia in children. In: Clinical Endocrinology
Update: 2000 Syllabus. Mandel S (ed.), Bethesda, MD: Endocrine Society Press, pp 329-337,
2000.
30. Carpenter TO: Rickets. In: Essence of Office Pediatrics. Stockman JA, Lohr JA (eds.),
Philadelphia: WB Saunders, p344, 2001.
31. Carpenter TO: Disorders of calcium and bone metabolism in infancy and childhood. In: Principles
and Practices of Endocrinology and Metabolism. (3rd ed). Becker K (ed.), Philadelphia:
Lippincott Williams & Wilkins, pp 688-695, 2001.
32. Jueppner H, Carpenter TO: Disorders of the Parathyroids, Hypocalcemia and Hypercalcemia.
In: Gellis and Kagan's Current Pediatric Therapy 17. Burg FD, Ingelfinger J, Polin RA, Gershon
AA(eds.), Philadelphia: WB Saunders, pp 687-692, 2002.
33. Carpenter TO. Hypercalcaemic and hypocalcaemic disorders in children. In: Oxford Textbook of
Endocrinology. Wass AH, Shalet SM (eds.), Oxford, UK: Oxford University Press. pp 655-664.
2002.
34. Rivkees SA, Carpenter TO. Hyperparathyroidism in children. In: Pediatric Endocrinology. (3rd
ed). Lifshitz F (ed.), New York, NY: Marcel Dekker, pp 469-479, 2003.
35. Carpenter TO: Rickets. In: YourDoctor.com website. Root, A, section editor, 200
36. Levine B, Carpenter TO. Rickets: the skeletal disorders of impaired calcium or phosphate
availability. In: Pediatric Endocrinology: A Practical Clinical Guide. Radovic S and MacGillivray
M (eds.), Totowa, New Jersey: Humana Press, pp 365-379, 2003.
37. Carpenter TO: Rachitismo ipofosfatemico X-linked: caratteristiche cliniche e orientamento per la
gestione. In: Osteopatie Pediatriche Emergenti: Fisiopatologia Clinica e Terapia. Greggio NA,
Rigon F, and Zacchello F (eds.), Padova, Italia: Piccin Nuova Libraria, pp 109-138, 2003.
38. Holm IA, Econs MJ, Carpenter TO. Familial hypophosphatemia and related disorders. In:
Pediatric Bone: Biology & Diseases. Glorieux FH, Juppner H, Pettifor JM (eds.). San Diego, CA:
Academic Press, pp 603-631, 2003.
39. Carpenter TO: Neonatal hypocalcemia. In: Primer on the Metabolic Bone Diseases and
Disorders of Mineral Metabolism (5th ed). Favus MJ (ed.), Washington, DC: American Society
for Bone and Mineral Research. 286-288, 2003.
40. Calvo M, Carpenter TO. Influence of phosphorus on bone health. In: Nutritional Aspects of Bone
Health. New SA, Bonjour J-P, (eds.). Cambridge, UK: Royal Society of Chemistry, pp 229-265,
2003.
41. Carpenter TO, Insogna KI: The hypocalcemic disorders: differential diagnosis and therapeutic
use of vitamin D. In: Vitamin D (2nd ed) . Feldman D, Glorieux F, Pike JW (eds), San Diego:
Academic Press, pp 1049-1063, 2005.
42. DeLucia MC, Carpenter TO. Nutritional rickets with normal circulating 25-hydroxyvitamin D
levels. Review Series: Pediatrics 8: 30-31, 2005.
43. Carpenter TO: Hypocalcemia in children. In: A Current Review of Pediatric Endocrinology. CA
Alter, LE Cohen, JS Fuqua, ME Geffner (eds.), Norwell, MA:Serono Symposia USA, pp189-195,
2005.
44. Carpenter TO, Calvo MS; From bench to bedside: a review of the hypophosphatemic
syndromes; in: Rivkees S, Stanhope R, Touraine P, Trainer P (eds): Proceedings of the 37th
International Symposium: GH and Growth Factors in Endocrinology and Metabolism, Athens,
Greece. Austin, TX: CMM Global, pp 28-30, 2005.
45. Jueppner H, Carpenter TO: Disorders of the Parathyroids, Hypocalcemia and Hypercalcemia.
In: Gellis and Kagan's Current Pediatric Therapy 18. Burg FD, Ingelfinger J, Polin RA, Gershon
AA (eds.), Philadelphia: WB Saunders, pp. 966-972, 2006.
46. Carpenter TO: Neonatal hypocalcemia. In: Primer on the Metabolic Bone Diseases and
Disorders of Mineral Metabolism (6th ed). Favus MJ (ed.), Washington, DC: American Society
for Bone and Mineral Research. p. 224-227, 2006.
47. Carpenter TO: Rickets. In: A Current Review of Pediatric Endocrinology. LE Cohen, JS Fuqua,
SW Ponder, WE Russell (eds.), Norwell, MA:BioSymposia USA, pp163-168, 2007.
48. Carpenter TO, Drezner M. Primary disorders of phosphate metabolism. In:
WWW.ENDOTEXT.ORG, version of September 10, 2007, (Section Ed: Arnold A), published by
MDTEXT.COM, INC, S. Dartmouth, Ma.
49. Banasiak K, Carpenter TO. Disorders of Calcium, Magnesium, and Phosphate. In: Rogers
Textbook of Pediatric Intensive Care (4th Ed). Baltimore: Lippincott, Williams and Wilkins, pp.
1635-1648, 2008.
50. Carpenter TO: Disorders of Mineral Metabolism in Childhood. In: Primer on the Metabolic Bone
Diseases and Disorders of Mineral Metabolism (7th ed). Rosen CJ (ed.), Washington, DC:
American Society for Bone and Mineral Research. p. 349-353, 2008.
51. Genel M, Carpenter T. Pediatric Endocrinology, Chapter 20E in Pearson HA (ed.): The American
Board of Pediatrics 1933-2008. Chapel Hill, NC: American Board of Pediatrics, pp.159-162,
2008.
52. Ardeshirpour L , Carpenter TO. Hypercalcaemic and hypocalcaemic disorders in children. In:
Oxford Textbook of Endocrinology (2nd ed). Wass JAH, Stewart PM (eds.), Oxford, UK: Oxford
University Press. pp 687-700, 2011.
53. Carpenter TO. Primary disorders of phosphate metabolism. In: WWW.ENDOTEXT.ORG,
version of September 20, 2010, (Ed: DeGroot L; Section Ed: Singer F), published by
MDTEXT.COM, INC, S. Dartmouth, Ma.
54. Carpenter TO, Insogna KI: The hypocalcemic disorders: differential diagnosis and therapeutic
use of vitamin D. In: Vitamin D (3rd ed). Feldman D, Adams JS, Pike JW (eds), San Diego:
Elsevier, pp 1091-1106, 2011.
55. Imel EA, Carpenter TO. Rickets: the skeletal disorders of impaired calcium or phosphate
availability. In: Pediatric Endocrinology: A Practical Clinical Guide (2nd ed.). Radovic S and
MacGillivray M (eds.), New York: Springer Science and Business Media, Inc. pp. 357-378, 2013.
56. Holm IA, Econs MJ, Carpenter TO. Familial hypophosphatemia and related disorders. In:
Pediatric Bone: Biology & Diseases (2nd Ed). Glorieux FH, Juppner H, Pettifor JM (eds.). San
Diego: Elsevier, pp 699-726, 2012.
57. Gordon C, Carpenter TO, Abrams SA. Vitamin D in Babies and Children. American Academy of
Pediatrics. PREP Audio, February 2013.
58. Carpenter T. Overview of rickets in children. In: UptoDate (Section Ed: Wolfsdorf JI; Deputy Ed:
Hoppin AG). Wolters Kluwer, 2013. (Updated August 5, 2014). Accessible at:
www.uptodate.com/contents/overview-of-rickets-inchildren?source=search_result&search=rickets+in+children&selectedTitle=1~97
59. Carpenter T. Etiology and treatment of calcipenic rickets in children. In: UptoDate (Section Eds:
Drezner MK, Wolfsdorf JI; Deputy Ed: Hoppin AG). Wolters Kluwer, 2013. (Updated August 6,
2014). Accessible at: www.uptodate.com/contents/etiology-and-treatment-of-calcipenic-ricketsin-children?source=search_result&search=rickets+in+children&selectedTitle=2~97
60. Carpenter TO: Disorders of Mineral Metabolism in Childhood. In: Primer on the Metabolic Bone
Diseases and Disorders of Mineral Metabolism (8th ed). Rosen CJ (ed.), Washington, DC:
American Society for Bone and Mineral Research. pp 651-658, 2013.
61. Carpenter TO. Primary disorders of phosphate metabolism. In: WWW.ENDOTEXT.ORG,
version of July 26, 2014, (Ed: DeGroot L; Section Ed: Singer F), published by MDTEXT.COM,
INC, S. Dartmouth, Ma.
62. Imel EA, Carpenter TO. A practical clinical approach to paediatric phosphate disorders.
Endocr Dev: 28:134-161, 2015.
63. Imel EA, Carpenter TO. Rickets: the skeletal disorders of impaired calcium or phosphate
availability. In: Pediatric Endocrinology: A Practical Clinical Guide (3rd ed.). Radovic S and
Misra M (eds.), New York: Springer Science and Business Media, Inc. In press.
64. Gafni RI, Insogna KI, Carpenter TO: The hypocalcemic disorders. In: Vitamin D (4th ed).
Feldman D, Pike JW, Bouillon R, Giovanucci E, Goltzman D, Hewison M (eds), San Diego:
Elsevier, In Press.
65. Carpenter TO, Ma NS: Disorders of Mineral Metabolism in Childhood. In: Primer on the
Metabolic Bone Diseases and Disorders of Mineral Metabolism (9th ed). Bilezikian J (ed.),
Washington, DC: American Society for Bone and Mineral Research. In press.
66. Robinson C, Ardeshirpour L , Carpenter TO. Hypercalcaemic and hypocalcaemic disorders in
children. In: Oxford Textbook of Endocrinology (3
rd ed). Wass JAH, Stewart PM (eds.), Oxford,
UK: Oxford University Press. In press.
67. Carpenter TO, Bergwitz C, Insogna KL. Phosphorus homeostasis and related disorders In:
Principles of Bone Biology, (4th ed). Bilezikian JP, Martin TJ, Clemens TL, Rosen CJ, San Diego,
CA, USA: Elsevier. 2020, pp 469-507.
68. Carpenter TO. Primary Disorders of Phosphate Metabolism. [updated June 8, 2022]. In: Feingold
KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dhatariya K, Dungan K, Hershman JM,
Hofland J, Kalra S, Kaltsas G, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère
B, Levy M, McGee EA, McLachlan R, Morley JE, New M, Purnell J, Sahay R, Singer F, Sperling
MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA):
MDText.com, Inc.; 2000–

Other Commentary

1. Carpenter TO: A new compendium for pediatric bone disease (Invited Book Review). Trends in
Endocrinol and Metab. 1:373-374, 1990.
2. DeLucia M, Carpenter TO. Rickets in the sunshine? (editorial) Nutrition 18:97-99, 2002.
3. Carpenter TO. Editorial: Variable degrees of 1-α hydroxylase activity – fine tuning the rachitic
rheostat (editorial). J Clin Endocrinol Metab 87:2421-2423, 2002.
4. Carpenter TO. Oncogenic osteomalacia – a complex dance of factors (editorial). New Engl J
Med 348:1705-1708, 2003.
5. Carpenter TO. Take another CYP: confirming a novel mechanism for “idiopathic” hypercalcemia.
(editorial). J Clin Endocrinol Metab 97:768-771, 2012.
6. Eswarakumar A, Robinson C, Carpenter TO. Response to report of rickets in twins occurring
after maternal bisphosphonate exposure (Letter to the Editor). Arch Pediatr 27:233-234, 2020
7. Carpenter T, Hu P. A commentary on: The D-Health Trial: a randomised controlled trial of the
effect of vitamin D on mortality. PracticeUpdate website. Available
at: https://www.practiceupdate.com/content/the-effect-of-vitamin-d-on-mortality/130673/65/8/1.
Accessed January 31, 2022


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