Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1

Koprulu O., Ozkan B., Acar S., Nalbantoglu O., Donmez B. O., Arslan G., ...Daha Fazla

MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL, cilt.56, sa.2, ss.291-298, 2022 (ESCI, TRDizin) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.14744/semb.2021.28044
  • Dergi Adı: MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.291-298
  • Anahtar Kelimeler: Congenital adrenal hyperplasia, CYP11B1, CYP17A1, CYP21A2, STAR
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objectives: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90-95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-beta-hydroxysteroid dehydrogenase deficiency, 11-beta-hydroxylase deficiency (11 beta-OHD) (%5-8), 17-alpha-hydroxylase deficiency (17 alpha-OHD), and steroidogenic acute regulatory protein (STAR) defects (congenital lipoid adrenal hyperplasia) with mutations in HSD3B2, CYP11B1, CYP17A1, and STAR, respectively. Objectives: Herein, we aimed to present the clinical and genetic features of 64 patients with various types of CAH.