Androgen Insensitivity Syndrome is a genetic disorder that leads to decreased action of the androgen receptor, making them insensitive to action by testosterone in the body. This results in externally female characteristics in an individual who is genetically male with an X Y chromosome pair (They are 46, XY).
The disease occurs as a spectrum from complete to partial insensitivity, therefore leading to varied presentations from a normal-appearing female with the absence of menstruation to males with some feminine physical characteristics, or just infertility. The gene responsible for the inactive androgen receptor is on the X chromosome and is inherited from the mother who is a carrier, meaning she possesses the gene but doesn’t express the disease. This condition is fairly common occurring in 2-5 individuals per 100,000. Complete androgen insensitivity is the most common form encountered.
They may present in adolescence or in childhood for varied complaints.
The diagnosis is usually considered in a young woman presenting with the classical features described above or in an infant with groin swellings. The following tests are carried out to confirm the diagnosis:
There is a risk of cancer arising from the testes if left in the body. This risk has been found to be quite small in recent studies. It is recommended to surgically remove the testes in adulthood to prevent cancer
Infertility: The absence of appropriate internal genital organs render the individual incapable of bearing children.
It is important to understand that there is no treatment to correct this condition or reverse it even if suspected at an early stage of development.
The management revolves around psychological support to the individual and their families towards understanding the condition and to help them choose options to live a healthy life.