Mutational analysis of androgen receptor gene in two families with androgen insensitivity

Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome

Androgens are essential for normal male sex differentiation and are responsible for the normal development of male secondary sexual characteristics at puberty. The physiological effects of androgens are mediated by the androgen receptor (AR). Mutations in the AR gene are the most common cause of androgen insensitivity syndrome. The present study undertook a genetic analysis of the AR gene in tw...

Complete Androgen Insensitivity Syndrome in Three Sisters

P-231: Androgen Receptor Gene Expression in Azoospermia Men

Background: Androgens are critical steroid hormones in progression of spermatogenesis process and determine the male phenotype that their actions are mediated by the androgen receptor (AR), a member of the nuclear receptor superfamily. In the Androgen receptor, transactivation domain encoded by exon 1, DNA binding domain encoded by exons 2 and 3, hinge region encoded by part of exon 4, and C-te...

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) is the most common single entity that results in male under-masculinization, but large cohort studies of AIS have rarely been performed. Over the last decade, nationwide cooperation between pediatric endocrinologists in the United Kingdom has allowed the creation of a database of cases of intersex and ambiguous genitalia where detailed clinical information ...

Genotype versus phenotype in families with androgen insensitivity syndrome.

Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains...