Androgen insensitivity syndrome (AIS) is a genetic condition that affects females and results in the partial or complete inability of their cells to respond to androgens, which are hormones that typically affect male development. AIS affects the development of the external genitals, reproductive organs, and other physical characteristics. It is estimated to occur in 1 out of every 20,000 newborns.
Symptoms of Androgen Insensitivity Syndrome
In most cases, AIS is diagnosed shortly after birth, based on the baby’s physical appearance. Common signs of AIS include:
• Ambiguous genitalia: The external genitals may not appear clearly male or female.
• Incomplete puberty: A person with AIS may have little or no development of secondary sexual characteristics, such as breast development, at the time of puberty.
• Infertility: A person with AIS may not be able to conceive a child naturally.
• Abnormal hormone levels: A person with AIS may have lower-than-normal levels of testosterone and other androgens.
Diagnosis of Androgen Insensitivity Syndrome
AIS is usually diagnosed shortly after birth, based on physical examination and analysis of chromosomes. In some cases, a diagnosis may be made during adolescence or adulthood, after a person experiences signs of AIS.
To diagnose AIS, a doctor may order blood or urine tests to measure hormone levels and/or genetic tests to look for specific gene mutations. A doctor may also order imaging tests, such as an ultrasound or an MRI, to check for any physical abnormalities.
Treatment of Androgen Insensitivity Syndrome
Treatment for AIS depends on the individual’s particular symptoms and may include hormone replacement therapy, surgery, and psychological support.
Hormone replacement therapy may be used to increase androgen levels and promote the development of secondary sexual characteristics. Surgery may be used to correct any deformities of the genitals or reproductive organs.
Psychological support may be necessary to help a person with AIS cope with the physical and emotional effects of the condition.
Outlook for Androgen Insensitivity Syndrome
AIS is a lifelong condition and there is no “cure” for it. However, with proper treatment, many people with AIS can lead normal lives.