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Androgen insensitivity syndrome (AIS) is a rare condition that affects the development of a child’s genitals and reproductive organs.A child born with AIS is genetically male, but the external appearance of their genitals may be female or somewhere between male and female.

Someone with AIS may benefit from psychological support, and in some cases may have treatment to alter the appearance of their genitals.

Most people born with the condition are unable to have children, but they’ll otherwise be perfectly healthy and able to lead a normal life.

What causes AIS?

AIS is caused by a genetic fault that’s usually passed on to a child by their mother.

Despite being genetically male, the body doesn’t respond to testosterone (the male sex hormone) properly and male sexual development doesn’t happen as normal.

The penis doesn’t form or is underdeveloped, which means the child’s genitals may appear female, or between male and female. However, they don’t have a womb or ovaries and have fully or partially undescended testicles.

Women who carry the genetic fault won’t have AIS themselves, but there’s a 1 in 4 chance each child they have will be born with the condition.

Read more about the causes of AIS.

Types of AIS

There are 2 main types of AIS, which are determined by how much the body is able to use testosterone. These are:

  • complete androgen insensitivity syndrome (CAIS) – where testosterone has no effect on sexual development, so the genitals are entirely female
  • partial androgen insensitivity syndrome (PAIS) – where testosterone has some effect on sexual development, so the genitals are often between male and female

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