Androgen Insensitivity Syndrome (AIS) is a rare genetic disorder that affects sexual development in individuals with XY chromosomes. It is characterized by a partial or complete inability of cells in the body to respond to male sex hormones, known as androgens. This condition is typically inherited, with affected individuals having one X and one Y chromosome.
In individuals with AIS, the body is unable to fully utilize the androgens produced during fetal development, resulting in a divergence between the genetic sex (XY) and the physical and/or sexual characteristics. As a consequence, affected individuals may present with varying degrees of feminization of external genitalia, such as an absent or underdeveloped penis, undescended testes, and a shallow vaginal pouch. Internally, the development of the reproductive organs can also be altered, with some individuals having a shortened or absent vagina, absent uterus, or undeveloped fallopian tubes.
Androgen Insensitivity Syndrome can range from complete androgen insensitivity, where individuals are born with external female genitalia and are raised as females, to partial androgen insensitivity, where individuals may have ambiguous genitalia or less pronounced feminization. It is important to note that AIS does not affect gender identity, as individuals with complete androgen insensitivity typically identify as females.
Diagnosis of AIS typically involves a combination of physical examinations, hormonal analysis, imaging techniques, and genetic testing. Early detection and management of AIS are crucial, as it aids in addressing any potential complications arising from undescended testes or associated reproductive health concerns that may require surgical intervention. Ongoing medical support and psychological care are often provided to individuals affected by AIS to address any social, emotional, or fertility-related challenges they may encounter.
