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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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ey0021.13-12 | Endocrinology | ESPEYB21

13.12. High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

Y Ozer , A Anık , U Sayılı , U Tercan , R Deveci Sevim , S Guneş , Pirimoğlu M Buhur , S Elmaoğulları , I Dundar , D Okdemir , O Besci , A Jalilova , D Cicek , B Singin , ŞE Ulu , H Turan , S Albayrak , Sutcu Z Kocabey , BS Eklioğlu , E Eren , S Cetinkaya , Ş Savaş-Erdeve , I Esen , K Demir , Ş Darcan , N Hatipoğlu , M Parlak , F Dursun , Z Şıklar , M Berberoğlu , M Keskin , Z Orbak , B Tezel , E Yuruker , B Keskinkılıc , F Kara , E Erginoz , F Darendeliler , O Evliyaoğlu

Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.Congenital hypothyroidism (CH), the most prevalent endocrine ...

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ESPE Yearbook of Paediatric Endocrinology

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

13.12. High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

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