ESPE Abstracts

Introduction: Genetic mutation in the CYP21A2 gene presents with various phenotypes in congenital adrenal hyperplasia (CAH). We conducted a cross-sectional study of the genotypic pattern and its corresponding phenotype at a tertiary care hospital of Eastern India.Method: We screened all children aged between 0-18 years under follow-up who underwent genetic analysis for CYP21A2 mutations based on clinical or biochemical f...