Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia

This study investigates the pathogenicity of novel CYP21A2 variants in relation to non-classic congenital adrenal hyperplasia (NC-CAH), a genetic disorder affecting hormone production. The research involved analyzing mutations from patients and databases, assessing their impact on CYP21A2 enzyme activity. Results showed that certain patient-derived variants significantly impair enzyme function, contributing to NC-CAH symptoms like androgenic alopecia. The findings enhance understanding of NC-CAH phenotypes and could improve diagnosis and treatment strategies, aiding in family planning and medical decisions for carriers.