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., ...Daha Fazla

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

  • 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
  • Hacettepe 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).