Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1
MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL, cilt.56, sa.2, ss.291-298, 2022 (ESCI, TRDizin)
- 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.