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 …

Background: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency:
online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial …

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 …

Abstract Human steroid 5α-reductase 2 (SRD5A2) plays a determinative role in the
masculinization of external genitalia. To date, approximately 114 different mutations of the …

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 …

Background Over 100 mutations in the SRD5A2 gene have been identified in subjects with
46, XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and …

Objective The 5α-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2
gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding …

Abstract Objective 5α-Reductase type 2 (5α-RD2) deficiency causes variable degrees of
undervirilization in patients. The correlation between its genotype and phenotype is unclear …

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. A deficiency in steroid 5α‐reductase type 2 is an autosomal recessive disorder.
Affected individuals manifested ambiguous genitalia, which is caused by decreased …