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

YILDIZ, Melek; Isik, Emregul; Abali, Zehra; KESKİN, MEHMET; Ozbek, Mehmet; Bas, Firdevs; Ucakturk, Seyit; Buyukinan, Muammer; Onal, Hasan; Kara, Cengiz; Storbeck, Karl-Heinz; Darendeliler, Feyza; Cayir, Atilla; Unal, Edip; ANIK, AHMET; DEMİRBİLEK, HÜSEYİN; Cetin, Tugba; Dursun, Fatma; ÇATLI, GÖNÜL; DEMİRCİOĞLU, SERAP; Falhammar, Henrik; Baris, Tugba; Yaman, Ali; HAKLAR, GONCAGÜL; BEREKET, ABDULLAH; GÜRAN, TÜLAY

doi:10.1210/clinem/dgab225

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

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YILDIZ M., Isik E., Abali Z. Y., KESKİN M., Ozbek M. N., Bas F., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.106, no.9, 2021 (SCI-Expanded)

Publication Type: Article / Article
Volume: 106 Issue: 9
Publication Date: 2021
Doi Number: 10.1210/clinem/dgab225
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, MEDLINE, Veterinary Science Database
Keywords: CYP11B1, congenital adrenal hyperplasia, steroid profiling, 11-oxygenated androgens, adrenal insufficiency, androgen excess, children, CONGENITAL ADRENAL-HYPERPLASIA, CYP11B1 MUTATIONS, 21-HYDROXYLASE DEFICIENCY, REFERENCE VALUES, POINT MUTATIONS, HEIGHT, CONSEQUENCES, PHENOTYPE, DISCOVERY, PREVALENT
Hacettepe University Affiliated: Yes

Abstract

Background: Given the rarity of 11 beta-hydroxylase deficiency (11 beta OHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11 beta OHD) and nonclassic 11 beta OHD (NC-11 beta OHD).