Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of
5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46, XY sex …

5 alpha steroid reductase 2 (5 alpha SR2) deficiency is an autosomal recessive enzyme
defect causing male pseudohermaphroditism (MPH) because of an abnormally low …

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 …

In this study, we aimed to determine androgen receptor (AR) and SRD5A2 gene mutations
in 45 patients characterised by 46, XY Disorders of Sex Differentiation (DSD) signs with …

β-hydroxysteroid dehydrogenase type 3 (17-β-HSD 3) deficiency is an autosomal recessive
form of 46, XY disorder of sex development (DSD). To date, a total of 27 HSD17B3 gene …

Aim: To identify the genotype of two Indians with male pseudohermaphroditism. Methods:
Standard radioimmu‐noassay procedure was used for estimating hormonal levels …

Context and objective The precise diagnosis of partially virilised women with 46, XY
disorders of sex development (DSD) is often obscure. In practice, this group often comes …

The 5α-reductase-2 encoded by the SRD5A2 gene plays a critical role in male sex
differentiation by converting testosterone into 5α dihydrotestosterone in the peripheral target …

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

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 …