Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.

doi:10.1210/clinem/dgab225

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Article

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.

The Journal of clinical endocrinology and metabolism - 18 Aug 2021

Yildiz Melek, Isik Emregul, Abali Zehra Yavas, Keskin Mehmet, Ozbek Mehmet Nuri, Bas Firdevs, Ucakturk Seyit Ahmet, Buyukinan Muammer, Onal Hasan, Kara Cengiz, Storbeck Karl-Heinz, Darendeliler Feyza, Cayir Atilla, Unal Edip, Anik Ahmet, Demirbilek Huseyin, Cetin Tugba, Dursun Fatma, Catli Gonul, Turan Serap, Falhammar Henrik, Baris Tugba, Yaman Ali, Haklar Goncagul, Bereket Abdullah, Guran Tulay

Abstract excerpt

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 nonclassic 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....

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PMID: 33830237
DOI: 10.1210/clinem/dgab225

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