The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene
mutation varies, and although there have been many attempts, the genotype-phenotype …

Background The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the
steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in …

Objective The 5α-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2
gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding …

Background. A deficiency in steroid 5α‐reductase type 2 is an autosomal recessive disorder.
Affected individuals manifested ambiguous genitalia, which is caused by decreased …

Context Steroid 5α‐reductase type 2 deficiency (5α‐RD 2) is a male‐limited, autosomal
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …

Objective To evaluate the pathogenic role of a few benign variants and hypomorphic
pathogenic variants in SRD5A2. Design and methods We retrospectively analyzed …

Molecular genetic characterization of mutations in SRD5 A2 gene is used as an essential
procedure for the final diagnosis of 5α-reductase deficiency. Here, we report a novel …

Background Patients with steroid 5α‐reductase 2 deficiency (5α‐RD) caused by SRD5A2
(OMIM# 607306) variants present variable genotypes and phenotypes. The genotype …

Abstract The 5α-reductase type 2 (5α-RD2) deficiency is one of the most common etiology of
46, XY disorders of sex development and is caused by pathogenic variants in SRD5A2 …

Mutations of the steroid 5α-reductase type 2 (SRD5A2) gene in 46, XY subjects cause
masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In …