The Molecular Basis of 5 α-Reductase Type 2 Deficiency

The 5 α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by theSRD5A2 gene, which maps to chromosome 2 (2p23), consists of 5 exons and 4 introns, and encodes a 254 amino acid protein. Disruptions in this gene are the molecular etiology of a subgroup of differences of sex development (DSD) in 46,XY patients. Affected individuals present a large range of external genitalia undervirilization, ranging from almost typically female external genitalia to predominantly typically male external genitalia with minimal undervirilization, including isolated micropenis. This is an updated review of the implication of theSRD5A2 gene in 5 α-reductase type 2 enzyme deficiency. For that, we identified 451 cases from 48 countries of this particular 46,XY DSD from the literature with reported variants in theSRD5A2 gene. Herein, we present theSRD5A2 mutational profile, theSRD5A2 polymorphisms, and the functional studies related toSRD5A2 variants to detail the molecular etiology of this condition.Sex Dev

Source: Sexual Development - July 6, 2022 Category: Biology Source Type: research