ANDROGEN RECEPTOR (AR) GENE MUTATIONS IN 6 FAMLIES WITH ANDROGEN INSENSITIVITY SYNDROME

Complete Androgen Insensitivity Syndrome in Three Sisters

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...

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

abnormalities. Therefore, the proband was confirmed to have AIS by clinical presentations, biochemistry, ultrasonography, and pathology. Genomic DNA was extracted from peripheral blood leukocytes using standard methods. All eight exons of AR were amplified by polymerase chain reaction (PCR) using appropriate primers designed by Primer Premier and Oligo (Premier Biosoft Co. Ltd., Palo Alto, Cali...

Complete Androgen Insensitivity Syndrome.

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genita...

Androgen insensitivity syndrome

The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild androgen insensitivity syndrome (MAIS). Th...