Society and culture
In the film Orchids, My Intersex Adventure, Phoebe Hart and her sister Bonnie Hart, both women with CAIS, documented their exploration of AIS and other intersex issues.Recording artist Dalea is a Hispanic-American Activist who is public about her CAIS. She has given interviews about her condition and founded Girl Comet, a non-profit diversity awareness and inspiration initiative.In 2017, fashion model Hanne Gaby Odiele disclosed that they were born with the intersex trait androgen insensitivity syndrome. As a child, they underwent medical procedures relating to the condition, which they said took place without their or their parents informed consent. They were told about their intersex condition weeks before beginning their modelling career.In the 1991 Japanese horror novel Ring and its sequels, by Koji Suzuki (later adapted into Japanese, Korean, and American films), the central antagonist Sadako has this syndrome, as revealed by Dr Nagao when confronted by Ryuji and Asakawa. Sadakos condition is referred to by the earlier name "testicular feminisation syndrome". In season 2, episode 13 ("Skin Deep") of the TV series House, the main patients cancerous testicle is mistaken for an ovary due to the patients undiscovered CAIS.In season 2 of the MTV series Faking It, a character has CAIS.
In men, disease states are associated with extremes in polyglutamine tract length; prostate cancer, hepatocellular carcinoma, and intellectual disability are associated with too few repetitions, while spinal and bulbar muscular atrophy (SBMA) is associated with a CAG repetition length of 40 or more. Some studies indicate that the length of the polyglutamine tract is inversely correlated with transcriptional activity in the AR protein, and that longer polyglutamine tracts may be associated with male infertility and undermasculinized genitalia in men. However, other studies have indicated no such correlation exists. A comprehensive meta-analysis of the subject published in 2007 supports the existence of the correlation, and concluded these discrepancies could be resolved when sample size and study design are taken into account. Some studies suggest longer polyglycine tract lengths are also associated with genital masculinization defects in men. Other studies find no such association. AR mutations
As of 2010, over 400 AR mutations have been reported in the AR mutation database, and the number continues to grow. Inheritance is typically maternal and follows an X-linked recessive pattern; individuals with a 46,XY karyotype always express the mutant gene since they have only one X chromosome, whereas 46,XX carriers are minimally affected. About 30% of the time, the AR mutation is a spontaneous result, and is not inherited. Such de novo mutations are the result of a germ cell mutation or germ cell mosaicism in the gonads of one of the parents, or a mutation in the fertilized egg itself.