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

This paper reviews state-of-the-art knowledge on steroid biosynthesis pathways in the pig
and provides an updated characterization of the porcine genes involved in these pathways …

Children exhibit gender-typical preferences in play, toys, activities and interests, and
playmates. Several studies suggest that high concentrations of pre-and postnatal androgens …

Disorders of sex development (DSD) are a group of clinical conditions with variable
presentation and genetic background. Females with or without development of secondary …

Individuals living with an intersex condition have not received much attention in counseling
psychology, although a high need for psychosocial care is obvious. Using a mixed-methods …

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

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 …

Objective: To investigate the functional change of SRD5A2 gene mutations identified in
patients with 5α-reductase type 2 deficiency. Patients and Methods: Three unrelated …

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 evaluate the pathogenic role of a few benign variants and hypomorphic
pathogenic variants in SRD5A2. Design and methods We retrospectively analyzed …