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 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 …

Steroid 5α-reductase type 2 deficiency (5α-RD2) is a rare autosomal recessive inherited
disorder caused by mutations in the SRD5A2 gene. Its clinical features and pathogenesis in …

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 AND OBJECTIVE Mutations of the steroid 5α‐reductase type 2 (SRD5A2)
gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from …

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 …

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 …

Context Affected by steroid 5α‐reductase type 2 deficiency (5α‐RD 2), 46, XY individuals
present divergent phenotypes characterized by undervirilization of male external genitalia …

We report a Chinese family in which two family members were diagnosed to have steroid
5alpha-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated …