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13.8. Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

Z Li , L Huang , C Du , C Zhang , M Zhang , Y Liang , X Luo

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507 This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815) Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

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ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

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ey0019.3-2 | Thyroid hormone action | ESPEYB19

3.2. Congenital hypothyroidism and hyperthyroidism alters adrenal gene expression, development, and function

K Patyra , C Lof , H Jaeschke , H Undeutsch , HS Zheng , S Tyystjarvi , K Puławska , M Doroszko , M Chruściel , BM Loo , R Kurkijarvi , FP Zhang , CJ Huang , C Ohlsson , A Kero , M Poutanen , J Toppari , R Paschke , N Rahman , I Huhtaniemi , J Jaaskelainen , J Kero

Thyroid. 2022 Apr;32(4):459-471. doi: 10.1089/thy.2021.0535. PMID: 35044245Brief Summary: This study combines animal model and patient cohort data on the effect of hyperthyroidism and hypothyroidism at birth on adrenal gland development and function. The data revealed reciprocal effects of neonatal hyper- and hypothyroidism on adrenal development, activity of the adrenal steroidogenic pathway a...

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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

13.8. Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

4.11. Genetic architecture associated with familial short stature

3.2. Congenital hypothyroidism and hyperthyroidism alters adrenal gene expression, development, and function

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

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