Objective: To investigate the functional change of SRD5A2 gene mutations identified in
patients with 5α-reductase type 2 deficiency. Patients and Methods: Three unrelated …

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 …

Objectives: To investigate the prevalence of genetic mutations in steroid 5α-reductase-2
(SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children …

Background/Aim: Defects in the steroid 5α-reductase type 2 (SRD5A2) activity cause
decreased formation of dihydrotestosterone (DHT) from testosterone (T), resulting in …

abstract Context: In 46, XY disorders of sex development, 5α-reductase deficiency is rare
and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to …

Background The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the
steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in …

Background Hypospadias is one of the most common forms of congenital malformation of
the male external genitalia worldwide. The ratio in the Iranian population is one in 250 live …

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 …

OBJECTIVE: To describe two unrelated Thai patients with suspected 5α-reductase type 2
deficiency and perform mutation analysis of the SRD5A2 gene. DESIGN: Case report …

Hypospadias, a common congenital malformation of male external genitalia, is
characterized mainly by an aberrant opening of the urethra on the ventral side of the penis …