Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia.

Introduction: Steroid hydroxylase deficiency due to CYP21A2 gene mutation is the most common cause of Congenital Adrenal Hyperplasia (CAH). Mutation spectrum in Sri Lankan CAH patients has not been investigated adequately.

Objectives: This study attempted to study the spectrum of mutations in CYP21A2 gene in 30 patients with salt wasting form of CAH in Sri Lanka.