Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges

Complete Androgen Insensitivity Syndrome in Three Sisters

Psychological outcomes and gender-related development in complete androgen insensitivity syndrome.

We evaluated psychological outcomes and gender development in 22 women with complete androgen insensitivity syndrome (CAIS). Participants were recruited through a medical database (n = 10) or through a patient support group (n = 12). Controls included 14 males and 33 females, of whom 22 were matched to women with CAIS for age, race, and sex-of-rearing. Outcome measures included quality of life ...

Androgen insensitivity syndrome: do trinucleotide repeats in androgen receptor gene have any role?

AIM To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome (AIS) phenotype. METHODS We analyzed lengths of androgen receptor (AR)-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction (PCR) amplification followed by allelic genotyping to...

Down syndrome in association with features of the androgen insensitivity syndrome.

Three cases of Down syndrome (DS) are reported in association with features of the androgen insensitivity syndrome (AIS). All were 47, XY, +21 and reared as females. One case had a normal female phenotype, and two cases showed minimal clitoromegaly and labial fusion. Minor genital underdevelopment has been reported as common in males with DS; however, AIS has not previously been associated with...

Two cases of androgen insensitivity due to somatic mosaicism

Androgen insensitivity syndrome (AIS) is caused by mutations in the gene encoding the androgen receptor (AR). The incidence of AIS is estimated to be 1 in 99,000. Complete androgen insensitivity syndrome (CAIS) is characterized by a 46,XY karyotype with external genitalia that appear typically female and results from mutations that render the androgen receptor non-functional. Partial androgen i...