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 …

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

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 …

Objective: To describe the clinical, biological and molecular data in a large Egyptian kindred
with 5α-reductase deficiency. Patients and Methods: Three patients with ambiguous …

The molecular basis for male pseudohermaphroditism produced by the 5α‐reductase
deficiency is becomining Increasingly understood. OBJECTIVE We have performed …

BACKGROUND AND OBJECTIVE Male pseudohermaphroditism due to 5α‐reductase
deficiency was originally described in 1974. Recently, 5α‐reductase Type 2 gene defects …

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 …

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 …

Abstract Clinical records (n= 24) with an established diagnosis of 5α-reductase-2 deficiency
were reviewed. A previous misdiagnosis was present in about 70%(period from first …

The molecular basis of 5 alpha-reductase (5 alpha R) deficiency was investigated in four
patients from three European families. In the French family, the first patient was raised as a …