OBJECTIVE: To describe two cases of 5α-reductase deficiency and the identification of a
novel frameshift mutation in this sibling pair. DESIGN: Case report. SETTING: An adolescent …

Steroid 17β-hydroxysteroid dehydrogenase III (17β-HSD3) deficiency is a rare autosomal
recessive disorder that usually presents in patients with a 46, XY karyotype with ambiguous …

We report on seven Iraqi patients with 46, XY karyotype and ambiguous genitalia
characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable …

The enzyme steroid 5 alpha-reductase, via NADPH, catalyses the conversion of testosterone
to dihydrotestosterone, which is required for the embryonic differentiation of the external …

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3), due to mutations in
the gene encoding the enzyme, results in a rare autosomal recessive form of male-to-female …

Background Testicular morphology and immunohistochemical studies have never been
reported in genetically documented adult patients with 5 alpha-reductase type 2 deficiency …

The goal of this study was to perform 5‐α‐reductase type 2 gene (SRD5A2) analysis in a
male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and …

Male pseudohermaphroditism due to steroid 5α‐reductase deficiency is the consequence of
mutations in the gene encoding the type 2 isoenzyme. Most (60%) affected subjects have …

Background Studies regarding genetic and clinical characteristics, gender preference, and
gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are …

Two steroid 5α-reductase isoenzymes catalyze the conversion of testosterone into
dihydrotestosterone, the more bioactive androgen, which is essential for male phenotypic …