Disorders of sex development (DSD) pose a considerable challenge for those affected, their
families and care takers but also for medical professionals who attempt to and by their …

Background: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency:
online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial …

Background: The objective of the study was to describe the prevalence, clinical
characteristics and aetiological diagnosis in children with disorders of sex development …

Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD)
present with indistinguishable phenotypes among the 46, XY disorders of sexual …

In this study, we aimed to determine androgen receptor (AR) and SRD5A2 gene mutations
in 45 patients characterised by 46, XY Disorders of Sex Differentiation (DSD) signs with …

The aim of this study was to assess the clinical and endocrinological features, and to
analyze AR and SRD5A2 genes in patients with 46, XY disorders of sex development …

Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD)
present indistinguishable phenotypes among the 46, XY disorders of sexual development …

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 …

The aim of this study was to assess the prevalence of pathogenic variants in the SRD5A2
gene in children with 46, XY disorders of sex development (DSD) with normal to high serum …

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 …