Alternative Names & Classifications:
Testicular Feminization Syndrome (CLINICAL)
Description
Androgen Insensitivity Syndrome (AIS) occurs in individuals who are genetically male (46,XY) but have a mutation in the androgen receptor gene. While their internal testes produce normal or high levels of testosterone, their body's cells completely fail to recognize or respond to the hormone. As a result, the body defaults to female physical development, creating a female external appearance with undescended internal testes and no uterus.