Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a rare condition that affects the development of male sexual characteristics in people who have a male genetic makeup (XY chromosomes).

Androgen Insensitivity Syndrome: What You Should Know

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Androgen Insensitivity Syndrome (AIS) is a rare condition that affects the development of male sexual characteristics in people who have a male genetic makeup (XY chromosomes). People with AIS have a mutation in the gene that codes for the androgen receptor, a protein that allows cells to respond to male hormones such as testosterone. Depending on the severity of the mutation, people with AIS may have female, male or ambiguous external genitals, but they do not have functional internal reproductive organs.

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There are three types of AIS:

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  • Complete
  • Partial
  • Mild.

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Complete AIS (CAIS) means that the person is completely insensitive to androgens and has female external genitals, but no uterus, ovaries or fallopian tubes. People with CAIS are usually raised as girls and may not discover their condition until puberty, when they do not menstruate or develop breasts.

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Partial AIS (PAIS) means that the person has some sensitivity to androgens and may have genitals that are partly male and partly female, or not clearly one or the other. People with PAIS may be raised as boys or girls, depending on the appearance of their genitals and their gender identity.

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Mild AIS (MAIS) means that the person has normal male external genitals, but may have reduced fertility or other problems related to low levels of androgens.

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What Causes AIS?

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AIS is caused by a mutation in the X chromosome that is inherited from the mother. The mother may be a carrier of the mutation without having any symptoms, or she may have mild symptoms of AIS herself. The risk of passing on the mutation to a child is 50% for each pregnancy. AIS is not contagious and cannot be acquired later in life.

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How to Diagnose AIS

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The diagnosis of AIS is based on physical examination, blood tests, genetic tests and imaging tests. The treatment of AIS depends on the type and severity of the condition, as well as the person's preferences and goals. Some possible treatments include hormone replacement therapy, surgery to correct or remove the genitals, psychological counselling and support groups.

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AIS is a lifelong condition that can affect a person's physical, emotional and social well-being. However, with proper medical care and support, people with AIS can lead healthy and fulfilling lives.

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