ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.13-9 | Endocrinology | ESPEYB21

13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

Z Siklar , E Camtosun , S Bolu , M Yildiz , A Akinci , F Bas , İ Dundar , A Bestas , E Unal , P Kocaay , T Guran , G Buyukyilmaz , AK Ugurlu , BG Tosun , I Turan , E Kurnaz , B Yuksel , D Turkkahraman , A Cayir , G Celmeli , EN Gonc , BS Eklioğlu , S Cetinkaya , SK Yilmaz , ME Atabek , M Buyukinan , E Arslan , E Mengen , EDP Cakir , M Karaoglan , N Hatipoglu , Z Orbak , A Ucar , N Akyurek , ED Akbas , E Isik , SB Kaygusuz , ZK Sutcu , G Seymen , M Berberoglu

Brief Summary: This retrospective cohort study analyzed data from 97 cases of 17α hydroxylase/17,20 lyase deficiency identified in Turkey. It focused on diagnostic testing, laboratory characteristics, long-term outcomes and therapeutic management.This nationwide study focuses on 17α-Hydroxylase/17,20-Lyase deficiency (17OHD), a rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. The research aims to evalua...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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