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 …

OBJECTIVE: To describe two unrelated Thai patients with suspected 5α-reductase type 2
deficiency and perform mutation analysis of the SRD5A2 gene. DESIGN: Case report …

Individuals with male karyotype (46, XY) affected by 5α-reductase type 2 deficiency, a rare
autosomal recessive inherited disorder, can have an almost female phenotype or partially …

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 …

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 …

A patient with male pseudohermaphroditism and clinical diagnosis of partial androgen
insensitivity in the neonatal period was studied at pubertal age for a molecular diagnosis …

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 …

Steroid 5α‐reductase deficiency is a rare autosomal recessive disorder caused by mutations
in the SRD5A2‐gene, resulting in diminished dihydrotestosterone (DHT) formation 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 …

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 …