Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction.

It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens.

Several case studies of fertile 46,XY males with AIS have been published,

Theoretically, certain mutant androgen receptors can function without androgens; in vitro studies have demonstrated that a mutant androgen receptor protein can induce transcription in the absence of androgen if its steroid binding domain is deleted. Depending on the form of AIS suspected, the list of differentials can include:

Estimates for the incidence of androgen insensitivity syndrome are based on a relatively small population size, thus are known to be imprecise.

In the UK, AIS appears on a list of serious genetic diseases that may be screened for via PGD. Some ethicists, clinicians, and intersex advocates have argued that screening embryos to specifically exclude intersex traits is based on social and cultural norms as opposed to medical necessity.

History

Recorded descriptions of the effects of AIS date back hundreds of years, although significant understanding of its underlying histopathology did not occur until the 1950s. In 1839, Scottish obstetrician Sir James Young Simpson published one such description

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 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. Sadako's 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 patient's cancerous testicle is mistaken for an ovary due to the patient's undiscovered CAIS. The episode has been criticized for its medical inaccuracy as well as its stigmatizing and offensive portrayal of CAIS.

In season 2 of the MTV series Faking It, a character has CAIS. 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
  • Hanne Gaby Odiele
  • Santhi Soundarajan
  • Miriam van der Have
  • Kimberly Zieselman

People with Complete androgen insensitivity syndrome

  • Georgiann Davis
  • Seven Graham
  • Alicia Roth Weigel

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
  • Intersex Peer Support Australia (former Androgen Insensitivity Syndrome Support Group Australia)

References

Information

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