Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH

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 protein structure and reduce enzyme activity, contributing to NC-CAH phenotypes. These findings enhance understanding of NC-CAH, aiding in diagnosis and treatment strategies to prevent severe outcomes like miscarriages or irreversible alopecia, and assist heterozygous carriers in family planning and medical decisions.