What is Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a rare genetic condition that affects sexual development in individuals with XY chromosomes. It is characterized by the body's inability to respond to male sex hormones called androgens. People with AIS are typically born with male genitals, but their bodies do not fully masculinize during puberty.

AIS is caused by mutations in the gene that codes for the androgen receptor, which is responsible for binding and responding to androgens. As a result, affected individuals may have varying degrees of feminization, including underdeveloped or absent male secondary sexual characteristics such as breast development and sparse body hair.

There are three main types of AIS: complete, partial, and mild. In complete AIS, individuals have female external genitalia and are often raised as girls. In partial AIS, individuals may have ambiguous genitalia or a mix of male and female characteristics. Mild AIS is the least severe form, with individuals having mostly male physical traits.

Diagnosis of AIS typically involves genetic testing and hormone level analysis. While AIS cannot be cured, management options include psychological support, hormone replacement therapy, and potential surgical interventions.