Genetic analysis of the SRD5A2 gene in Indian patients with 5α-reductase deficiency

Abstract

Background. 5α-Reductase deficiency (5RD) is uncommon autosomal recessive disorder of sexual differentiation. It results from impaired conversion of testosterone to dihydrotestosterone due to mutations in the steroid 5α-reductase type 2 gene (SRD5A2). Mutations in SRD5A2 have not been previously reported in Indian patients with 5RD. Aim: To delineate the clinical features and mutations in the SRD5A2 gene in Indian patients with 5RD. Patients and Methods: The SRD5A2 gene was sequenced in two unrelated patients with elevated testosterone/dihydrotestosterone ratio and in one patient with classical clinical features and virilization at puberty (in whom the ratio could not be measured due to prio..