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 present report describes a cluster of eight patients with male pseudohermaphroditism
from a large pedigree with steroid 5 alpha-reductase 2 deficiency (5 alpha RD), who reside …

Objective: Aim of this study is to report on basal clinical phenotype and follow up after
diagnosis, of patients with 17β-hydroxysteroid-dehydrogenase type 3 (17β-HSD3) …

The diagnosis of 5α-reductase deficiency was proven in two prepubertal patients with male
pseudohermaphroditism (MPH). Both had a 46-XY karyotype and were reared as females; …

Abstract Background: 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an
autosomal recessive disorder with diminished testosterone synthesis and consequently …

A male infant with perineal hypospadias and a small phallus bound in chordee is described.
Biochemical investigation at age 9 months after hCG stimulation revealed a testosterone to …

Studies within the Arab population in Israel revealed 25 pseudohermaphrodites due to 17β-
hydroxysteroid dehydrogenase (17β-HSD) deficiency. Twenty-three individuals, presently …

Abstract Severe 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency in the adrenals and
gonads is a well known cause of salt-wasting and non-salt-wasting forms of congenital …

Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase (17β-HSD)
deficiency has a high prevalence within the Arab population of the Gaza strip and is …