Melek Yildiz, Emregul Isik, Zehra Yavas Abali, Mehmet Keskin, Mehmet Nuri Ozbek, Firdevs Bas, Seyit Ahmet Ucakturk, Muammer Buyukinan, Hasan Onal, Cengiz Kara, Karl-Heinz Storbeck, Feyza Darendeliler, Atilla Cayir, Edip Unal, Ahmet Anik, Huseyin Demirbilek, Tugba Cetin, Fatma Dursun, Gonul Catli, Serap Turan, Henrik Falhammar, Tugba Baris, Ali Yaman, Goncagul Haklar, Abdullah Bereket, Tulay Guran
BACKGROUND: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and non-classic 11βOHD (NC-11βOHD). OBJECTIVE: To characterize a multicenter pediatric cohort with 11βOHD. METHOD: The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls...
April 8, 2021: Journal of Clinical Endocrinology and Metabolism