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 …

α-Reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, a potent androgen responsible for male sexual development during the …

Mutations of the steroid 5α-reductase type 2 (SRD5A2) gene in 46, XY subjects cause
masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In …

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 …

BACKGROUND AND OBJECTIVE Mutations of the steroid 5α‐reductase type 2 (SRD5A2)
gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from …

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 crucial for normal development of external genitalia and prostate in
the male embryo. Autosomal recessive mutations in the 5α-reductase type 2 (SRD5A2) gene …

Background: 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic
deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male …

Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing
a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which …

The 5α-reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by …