ESPE Abstracts

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hrp0098p2-302 | Late Breaking | ESPE2024

Clinical and molecular characteristics of 26 patients with P450 oxidoreductase deficiency: A multicenter study

Yildiz Melek , Bayrak Demirel Ozge , Cayir Atilla , Unal Edip , Dilruba Aslanger Ayca , Betul Kaygusuz Sare , Kahveci Ahmet , Akcay Teoman , Turan Ihsan , Demir Korcan , Yildirim Ruken , Kocabey Sutcu Zumrut , Arslan Emrullah , Deniz Papatya Cakir Esra , Akin Leyla , Kiremitci Yilmaz Seniha , Guran Tulay , Bas Firdevs

Background: P450 oxidoreductase (POR) deficiency is a rare cause of congenital adrenal hyperplasia (CAH) with a wide spectrum of clinical phenotypes including glucocorticoid deficiency, difference/disorder of sex development (DSD), skeletal malformations, and Antley-Bixler syndrome. We describe the clinical and molecular characteristics of a large cohort with POR deficiency with long-term data.Methods: The medical record...
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ESPE Abstracts

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