Endocrine Abstracts

Background and Objective: Congenital adrenal hyperplasia (CAH) is one of the most common diseases in pediatric endocrinology. Non-classical (NC-CAH) forms are characterized by milder enzyme dysfunction and manifests commonly in adolescence or adulthood. The most frequent form of NC-CAH occurs due to 21-hydroxylase deficiency which is caused by defects in the CYP21A2 gene. Our aim was to describe the most common 21-hydroxylase gene (CYP21A2) mutations in our geographical area i...