Androgen Insensitivity Syndrome (AIS) is a rare condition that affects 1 in 20,000 people and is caused by a mutation in the androgen receptor gene. AIS is a form of intersex, which means an individual has aspects of both male and female anatomy. It is usually diagnosed at birth or during childhood. People with AIS may have ambiguous genitalia, lack of secondary sexual characteristics, and may be infertile.
Symptoms of Androgen Insensitivity Syndrome
People with AIS may have a variety of symptoms, including:
• Ambiguous genitalia: This refers to genitals that don’t look clearly male or female.
• An inability to produce sperm or eggs
• A lack of secondary sexual characteristics, such as facial hair, body hair, or a deep voice
• Enlarged breasts
• Failure to menstruate
• A uterus that is not fully developed
• A vagina that is shorter than normal
• Problems with metabolism and cholesterol levels
• An increased risk of developing certain types of cancer
Diagnosing Androgen Insensitivity Syndrome
AIS is usually diagnosed at birth or during childhood. It can be diagnosed through a physical examination, medical history, and laboratory tests. A doctor may order genetic testing to confirm a diagnosis.
Treatment for Androgen Insensitivity Syndrome
There is no cure for AIS, but treatment can help manage symptoms. Treatment may include hormone therapy, surgery, and psychological support. Hormone therapy can help with the development of secondary sex characteristics and can help with fertility. Surgery may be necessary to repair the genitalia or to remove any tumors. Psychological support can help individuals deal with the emotional impact of having AIS.