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

Yildiz, Melek; Isik, Emregul; Abali, ZEHRA; Keskin, Mehmet; Ozbek, Mehmet; Bas, Firdevs; Ucakturk, Seyit; 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, GONCAGÜL; Bereket, ABDULLAH; Guran, TÜLAY

doi:10.1210/clinem/dgab225

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

Yildiz M., Isik E., Abali Z., Keskin M., Ozbek M. N., Bas F., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.106, sa.9, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 106 Sayı: 9
Basım Tarihi: 2021
Doi Numarası: 10.1210/clinem/dgab225
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: 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
Anahtar Kelimeler: 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
Marmara Üniversitesi Adresli: Evet

Özet

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).