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13.11. Clinical characteristics of 46,XX males with congenital adrenal hyperplasia

S Savaş-Erdeve , Z Aycan , S Cetinkaya , AP Ozturk , F Bas , S Poyrazoglu , F Darendeliler , E Ozsu , Z Sıklar , M Demiral , E Unal , M Nuri Ozbek , F Gurbuz , B Yuksel , O Evliyaoglu , N Akyurek , M Berberoglu

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216 The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described 15/44 (34%) were diagnosed before 2 years of age The median final height was 149.2 (range 133172) cmThis paper discusses an important ...

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ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 19 cases per 100,000 live-births. GD can be classified as either complete...

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ESPE Yearbook of Paediatric Endocrinology

13.11. Clinical characteristics of 46,XX males with congenital adrenal hyperplasia

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

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