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 …

Background/Aims: Steroid 5α-reductase deficiency (MIM* 607306) caused by mutations in
the SRD5A2 gene is characterized by a predominantly female phenotype at birth and …

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 …

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

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 …

Steroid 5a-reductase deficiency is a rare, male-limited autosomal recessive disorder caused
by mutation in the SRD5A2 gene resulting in a deficiency of dihydrotestosterone (DHT) …

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 …

Aims: The aim of this study was to perform a 5α-reductase type 2 gene (SRD5A2) analysis in
6 Korean patients with external genitalia ranging from predominantly female to male in …

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14
patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct …