Reduced conversion of testosterone (T) to dihydrotestosterone (DHT) results in defective
virilization in karyotypic males. Different mutations in the 5α-reductase type 2 gene cause …

Abstract 5 alpha-Reductase deficiency is a rare autosomal recessive disorder of defective
virilization in karyotypic males due to reduced conversion of testosterone to …

Abstract 5α-reductase-2 deficiency is a rare autosomal recessive form of 46, XY disorders of
sex differentiation (DSD), caused by mutations in the steroid 5α-reductase type 2 gene …

The molecular basis for male pseudohermaphroditism produced by the 5α‐reductase
deficiency is becomining Increasingly understood. OBJECTIVE We have performed …

Objective: To describe the clinical, biological and molecular data in a large Egyptian kindred
with 5α-reductase deficiency. Patients and Methods: Three patients with ambiguous …

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 …

Summary objective Analysis of the 5α‐reductase type 2 (SRD5A2) gene in Egyptian patients
with suspected 5α‐reductase (5αR) deficiency. patients and methods Eight unrelated …

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 …

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 …

Abstract Clinical records (n= 24) with an established diagnosis of 5α-reductase-2 deficiency
were reviewed. A previous misdiagnosis was present in about 70%(period from first …