ISSN 1662-4009 (online)

ey0019.2-22 | Miscellaneous | ESPEYB19

2.22. Large birth size, infancy growth pattern, insulin resistance and [beta]-cell function

R Huang , Y Dong , AM Nuyt , E Levy , SQ Wei , P Julien , WD Fraser , ZC Luo

Eur J Endocrinol. 2021 May 24;185(1):77-85. doi: 10.1530/EJE-20-1332. PMID: 33914700.Brief Summary: This case control study assessed beta-cell function and glucose metabolism in large for gestational age (LGA) infants in relation to their weight and growth parameters at 2 years of age. In LGA infants, changes in growth parameters were associated with changes in insulin resistance and beta-cell dy...

ey0018.2-10 | Neonatal diabetes mellitus | ESPEYB18

2.10. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose-induced ghrelin secretion.

A Auerbach , A Cohen , N Ofek Shlomai , A Weinberg-Shukron , S Gulsuner , MC King , R Hemi , E Levy-Lahad , A Abulibdeh , D Zangen

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

ey0018.9-13 | Cardiometabolic risk in chronic disease | ESPEYB18

9.13. Biomarkers of cardiometabolic complications in survivors of childhood acute lymphoblastic leukemia

S Morel , P Leveille , M Samoilenko , A Franco , J England , N Malaquin , V Tu , GB Cardin , S Drouin , F Rodier , S Lippe , M Krajinovic , C Laverdiere , D Sinnett , G Lefebvre , E Levy , V Marcil

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

ey0016.6-4 | New Functions of (Old) Genes | ESPEYB16

6.4. Essential role of BRCA2 in ovarian development and function

A Weinberg-Shukron , M Rachmiel , P Renbaum , S Gulsuner , T Walsh , O Lobel , A Dreifuss , A Ben-Moshe , S Zeligson , R Segel , T Shore , R Kalifa , M Goldberg , MC King , O Gerlitz , E Levy-Lahad , D Zangen

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

ey0015.9-8 | Growth, growth hormone and puberty in chronic diseases: novel insights from clinical practice | ESPEYB15

9.8 Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort

J Guzman , T Kerr , LM Ward , J Ma , K Oen , AM Rosenberg , BM Feldman , G Boire , K Houghton , P Dancey , R Scuccimarri , A Bruns , AM Huber , K Watanabe Duffy , NJ Shiff , RA Berard , DM Levy , E Stringer , K Morishita , N Johnson , DA Cabral , M Larché , RE Petty , RM Laxer , E Silverman , P Miettunen , AL Chetaille , E Haddad , L Spiegel , SE Turvey , H Schmeling , B Lang , J Ellsworth , SE Ramsey , J Roth , S Campillo , S Benseler , G Chédeville , R Schneider , SML Tse , R Bolaria , K Gross , D Feldman , B Cameron , R Jurencak , J Dorval , C LeBlanc , C St Cyr , M Gibbon , RSM Yeung , CM Duffy , LB Tucker

To read the full abstract: Pediatr Rheumatol Online J. 2017Aug 22;15(1):68This large prospective study analysed growth in children with JIA during a 3-year period from diagnosis. Interesting findings emerge: the heights and weights of these patients, clearly compromised in historical cohorts, appeared nearly normal. Increased risk of growth impairment was noted in patients with systemic arthr...