Androgen insensitivity syndrome

AIS; AR deficiency; DHTR deficiency; Dihydrotestosterone receptor deficiency; Testicular feminization syndrome; TFM

Androgen insensitivity syndrome (AIS, or "Androgen resistance syndrome") is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. It has also been called androgen resistance in the medical literature. The nature of the resulting problem varies according to the structure and sensitivity of the abnormal receptor. Most of the forms of AIS involve variable degrees of undervirilization and/or infertility in XY persons of either sex. ...