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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):10421049.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...

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ey0016.10-15 | (1) | ESPEYB16

10.15. Increased prevalence of disordered eating in the dual diagnosis of type 1 diabetes mellitus and celiac disease

I Tokatly Latzer , M Rachmiel , N Zuckerman Levin , K Mazor-Aronovitch , Z Landau , RF Ben-David , C GrafBar-El , N Gruber , N Levek , B Weiss , D Stein , L Lerner-Geva , O Pinhas-Hamiel

To read the full abstract: Pediatr Diabetes. 2018;19:749755.Disordered eating behaviors (DEBs) may lead to full blown eating disorders and these might impair patients adherence to chronic disease management. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) are associated with DEBs. Adolescents with T1D and eating disorders have worse metabolic control and a higher...

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ey0017.8-10 | New Hope | ESPEYB17

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31723180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

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ESPE Yearbook of Paediatric Endocrinology

6.4. Essential role of BRCA2 in ovarian development and function

10.15. Increased prevalence of disordered eating in the dual diagnosis of type 1 diabetes mellitus and celiac disease

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

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