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ey0015.2-12 | Neonatal diabetes with autoimmunity can be associated with LRBA Mutations | ESPEYB15

Neonatal diabetes with autoimmunity can be associated with LRBA Mutations

MB Johnson , E De Franco , H Lango Allen , A Al Senani , N Elbarbary , Z Siklar , M Berberoglu , Z Imane , A Haghighi , Z Razavi , I Ullah , Alyaarubi , D Gardner , S Ellard , AT Hattersley , SE Flanagan

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...

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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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ESPE Yearbook of Paediatric Endocrinology

Neonatal diabetes with autoimmunity can be associated with LRBA Mutations

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

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