Androgen insensitivity syndrome (AIS) is a genetic disorder in which an individual's cells are unable to respond to androgens, the hormones that play a role in male sexual development. Individuals with AIS typically have female external genitalia, but they lack internal reproductive organs. As a result, those with AIS are considered to be intersexed, meaning they have a combination of male and female physical characteristics.
What is Androgen Insensitivity Syndrome?
Androgen insensitivity syndrome (AIS) is a genetic disorder in which an individual's cells are unable to respond to androgens, the hormones that play a role in male sexual development. AIS is caused by a mutation in the androgen receptor gene, which is found on the X chromosome. As a result, those with AIS typically have female external genitalia, but they lack internal reproductive organs.
How is Androgen Insensitivity Syndrome Diagnosed?
AIS is usually diagnosed in infancy or early childhood. Diagnosis typically involves an evaluation of the external genitalia, as well as a karyotype to evaluate the chromosomes. In some cases, a biopsy of the internal genitalia may be performed to evaluate the presence of internal reproductive organs.
What Are the Effects of Androgen Insensitivity Syndrome?
Individuals with AIS typically have female external genitalia, but they lack internal reproductive organs. As a result, those with AIS are considered to be intersexed, meaning they have a combination of male and female physical characteristics. Additionally, individuals with AIS may experience infertility due to the lack of functional reproductive organs.
How is Androgen Insensitivity Syndrome Treated?
Treatment for AIS typically involves hormone replacement therapy. This may involve the administration of estrogen, testosterone, or a combination of both. Additionally, individuals with AIS may require surgery to reconstruct the external genitalia. In some cases, fertility treatments may be used to help individuals with AIS conceive.