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6.10. Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study

A Ben Simon , A Brener , A Segev-Becker , M Yackobovitch-Gavan , A Uretzky , A Schachter Davidov , A Alaev , A Oren , O Eyal , N Weintrob , Y Lebenthal

Brief summary: This retrospective case-control observational study assessed body composition of children with non-classic congenital adrenal hyperplasia (NCCAH) using bioelectrical impedance analysis (BIA). It showed that children with NCCAH have an imbalance between muscle and fat tissues compared with control subjects, which may place them at increased risk for early-onset cardiometabolic morbidity.Non-classic congenital adrenal hyperplasia (NCCAH) is ...

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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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ey0021.6-2 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

KL Ayers , S Eggers , BN Rollo , KR Smith , NM Davidson , NA Siddall , L Zhao , J Bowles , K Weiss , G Zanni , L Burglen , S Ben-Shachar , J Rosensaft , A Raas-Rothschild , A Jorgensen , RB Schittenhelm , C Huang , G Robevska , J van den Bergen , F Casagranda , J Cyza , S Pachernegg , DK Wright , M Bahlo , A Oshlack , TJ O'Brien , P Kwan , P Koopman , GR Hime , N Girard , C Hoffmann , Y Shilon , A Zung , E Bertini , M Milh , B Ben Rhouma , N Belguith , A Bashamboo , K McElreavey , E Banne , N Weintrob , B BenZeev , AH Sinclair

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

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ESPE Yearbook of Paediatric Endocrinology

6.10. Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study

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

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

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