Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia

Violeta Anastasovska; Mirjana Kocova

doi:10.1515/jpem.2010.147

Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia

Journal

Journal of Pediatric Endocrinology and Metabolism

Date Issued

2010-09

Author(s)

DOI

10.1515/jpem.2010.147

Abstract

Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity.