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 …

Introduction: 5a-Steroid reductase deficiency (5aSRD) is an autosomal recessive enzymatic
deficiency. Mutations in the 5a-steroid reductase type 2 gene (SRD5A2) result in male …

Steroid 5α‐reductase deficiency is a rare autosomal recessive disorder caused by mutations
in the SRD5A2‐gene, resulting in diminished dihydrotestosterone (DHT) formation and …

Steroid 5α‐reductase (5αR) deficiency (OMIM number# 264600) is a rare 46, XY disorder of
sex differentiation caused by mutations in the 5αR type 2 gene (SRD5A2) resulting in …

Objective: Deficiency of steroid 5-alpha reductase type 2 (5αRD2) is a rare autosomal
recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha …

ABSTRACT Background: 5a-Reductase deficiency (SRD) is an uncommon autosomal
recessive disorder of sexual differentiation. It results from impaired conversion of …

BACKGROUND The clinical spectrum of 5α-reductase deficiency, caused by mutations in
the SRD5A2 gene, ranges from complete female appearance of the external genitalia at …

Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal
recessive disorder that results in decreased conversion of testosterone to …

The aim of this article is to review the literature on steroid 5alpha-reductase type 2 deficiency
(5α-RD2) to provide clinicians with information to guide their management of patients with …

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 …