Summary objective Analysis of the 5α‐reductase type 2 (SRD5A2) gene in Egyptian patients
with suspected 5α‐reductase (5αR) deficiency. patients and methods Eight unrelated …

Inactivating mutations of the SRD5A2 gene result in steroid 5α‐reductase 2 deficiency, an
autosomal recessive disorder expressed as a male‐limited disorder of sex development …

Background: 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic
deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male …

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

Dihydrotestosterone is crucial for normal development of external genitalia and prostate in
the male embryo. Autosomal recessive mutations in the 5α-reductase type 2 (SRD5A2) gene …

Context The late presentation of steroid 5α-reductase-2 (SRD5A2) deficiency in females is
poorly characterised. The ratios of 5α/5β-reduced metabolites of adrenal steroids in a urine …

Background: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency:
online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial …

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 …

α-Reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, a potent androgen responsible for male sexual development during the …

Steroid 5α-reductase 2 deficiency is an autosomal recessive form of male
pseudohermaphroditism caused by mutations in the SRD5A2 gene. In this study, we …