Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

CONTEXT Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH. AIMS To find out the underlying mutations of CYP21A2 gene. SETTINGS AND DESIGN Cohort of CAH… CONTINUE READING