The prevalence of Androgen Insensitivity Syndrome (AIS) varies depending on the population studied. In general, AIS is considered a rare condition, affecting approximately 1 in every 20,000 to 64,000 individuals assigned female at birth. However, the exact prevalence may be underestimated due to undiagnosed or misdiagnosed cases. AIS is characterized by a partial or complete inability of the body to respond to androgens, resulting in atypical development of external genitalia and internal reproductive structures. Early diagnosis and appropriate medical management are crucial for individuals with AIS.
Androgen Insensitivity Syndrome (AIS) is a rare genetic disorder that affects sexual development in individuals with XY chromosomes. It is estimated that AIS occurs in approximately 1 in every 20,000 to 64,000 individuals assigned female at birth. However, the exact prevalence of AIS is difficult to determine due to underdiagnosis and misdiagnosis.
AIS is characterized by the body's inability to respond to male sex hormones (androgens), resulting in varying degrees of feminization of external genitalia and incomplete development of internal reproductive structures. The severity of AIS can vary widely, ranging from complete androgen insensitivity where individuals have typical female external genitalia, to partial androgen insensitivity where individuals may have ambiguous genitalia.
Diagnosis of AIS typically occurs during adolescence or adulthood when individuals may seek medical attention due to primary amenorrhea (absence of menstruation) or infertility. Genetic testing is necessary to confirm the diagnosis, as AIS is caused by mutations in the androgen receptor gene.
While AIS is a relatively rare condition, it is important to raise awareness and provide support for individuals and families affected by this disorder.