Introduction The conversion of testosterone into dihydrotestosterone is catalyzed by the 5α-
reductase type 2 enzyme which plays a crucial role in the external genitalia virilization. It is …

Androgens are an important class of C19 steroid hormones that control normal male
development and reproductive function. The main circulating androgen is testosterone …

BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46, XY disorders of
sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) …

Context Affected by steroid 5α‐reductase type 2 deficiency (5α‐RD 2), 46, XY individuals
present divergent phenotypes characterized by undervirilization of male external genitalia …

Background Patients with steroid 5α‐reductase 2 deficiency (5α‐RD) caused by SRD5A2
(OMIM# 607306) variants present variable genotypes and phenotypes. The genotype …

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 …

Deficiency of the 5α‐reductase 2 enzyme impairs the conversion of testosterone to
dihydrotestosterone (DHT) and differentiation of external genitalia, seminal vesicles and …

Context Steroid 5α‐reductase type 2 deficiency (5α‐RD 2) is a male‐limited, autosomal
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …

The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene
mutation varies, and although there have been many attempts, the genotype-phenotype …

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14
patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct …