A single mutation can affect all downstream functional domains if a premature stop codon or framing error results; such a mutation can result in a completely unusable (or unsynthesizable) androgen receptor protein. The steroid binding domain is particularly vulnerable to the effects of a premature stop codon or framing error, since it occurs at the end of the gene, and its information is thus more likely to be truncated or misinterpreted than other functional domains.Other, more complex relationships have been observed as a consequence of mutated AR; some mutations associated with male phenotypes have been linked to male breast cancer, prostate cancer, or in the case of spinal and bulbar muscular atrophy, disease of the central nervous system. The form of breast cancer seen in some men with PAIS is caused by a mutation in the ARs DNA-binding domain. This mutation is thought to cause a disturbance of the ARs target gene interaction that allows it to act at certain additional targets, possibly in conjunction with the estrogen receptor protein, to cause cancerous growth. The pathogenesis of spinal and bulbar muscular atrophy (SBMA) demonstrates that even the mutant AR protein itself can result in pathology. The trinucleotide repeat expansion of the polyglutamine tract of the AR gene that is associated with SBMA results in the synthesis of a misfolded AR protein that the cell fails to proteolyze and disperse properly. These misfolded AR proteins form aggregates in the cell cytoplasm and nucleus.
The character, Lauren Cooper, played by Bailey De Young, was the first intersex series regular on American television.In season 8, episode 11 ("Delko for the Defense") of the TV series CSI: Miami, the primary suspect has AIS which gets him off a rape charge.In series 8, episode 5 of Call the Midwife, a woman discovers that she has AIS. She attends a cervical smear and brings up that she has never had a period, and is concerned about having children as she is about to be married. She is then diagnosed with "testicular feminisation syndrome", the old term for AIS. People with AIS
Kitty Anderson (activist)
Eden Atwood
Bonnie Hart
Phoebe Hart
Maria José Martínez-Patiño
Hanne Gaby Odiele
Santhi Soundarajan
Miriam van der Have
Kimberly Zieselman

People with Complete androgen insensitivity syndrome
Georgiann Davis
Seven Graham

People with Partial androgen insensitivity syndrome
Tony Briffa
Favorinus of Arelate has been described as having partial androgen insensitivity syndrome. Small Luk
Eliana Rubashkyn
Sean Saifa Wall
Sogto Ochirov

See also
Estrogen insensitivity syndrome
Spinal and bulbar muscular atrophy
Congenital adrenal hyperplasia
5α-Reductase 2 deficiency

References
External links
Information
Androgen Insensitivity Syndrome at NIH/UW GeneTests
Online Mendelian Inheritance in Man (OMIM): Androgen Insensitivity Syndrome - 300068, 313700