Androgen Insensitivity Syndrome
A form of 46,XY intersex involving insensitivity to androgen because of a genetic absence of androgen receptors. The person has male sex chromosomes and internal sex organs, but external sex characteristics are feminized or ambiguous.
Androgen Insensitivity Syndrome (AIS) is a genetic disorder in which a person has male genes (XY chromosomes) but their body does not respond to male hormones (androgens). As a result, people with AIS have physical characteristics that are typically associated with females.
Symptoms of AIS can range from mild to severe, and depend on the degree of androgen insensitivity. Mild forms of AIS may show no noticeable signs, while more severe forms can feature undescended testicles, a shortened vagina, and an absent or underdeveloped uterus.
AIS is caused by mutations in the AR gene, which is responsible for producing the androgen receptor that enables the body to respond to male hormones. This mutation causes the androgen receptors to function poorly or not at all, leading to the symptoms of AIS.
AIS is typically diagnosed through genetic testing, which can detect mutations in the AR gene. Treatment for AIS may involve surgery to remove testes that are at risk for cancer, hormone replacement therapy, and psychological counseling to address any emotional and social impacts of the condition.
Living with AIS can be challenging, and it is important for individuals with this condition to have access to supportive healthcare professionals and resources to help them manage their physical and emotional health.
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