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) …

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 …

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 …

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 …

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 …

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 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 …

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

Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing
a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which …