Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS), also referred to as androgen resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The set of resulting disorders varies according to the structure and sensitivity of the abnormal receptor. Most forms of AIS involve a variable degree of undervirilization and/or infertility in XY persons of either gender. A person with complete androgen insensitivity syndrome (CAIS) has a female external appearance despite a 46XY karyotype and undescended testes, a condition once called "testicular feminization" a phrase now considered both derogatory and inaccurate.