Androgen insensitivity syndrome: Presentation, diagnosis, and management

Androgen insensitivity syndrome (AIS) is a genetic disorder impacting 46,XY individuals. It occurs in a complete form, producing a 46,XY female with female genitalia but no internal female reproductive organs; a partial form, producing a 46,XY newborn with genitalia intermediate between the classic male and female types; and a mild form, producing a 46,XY male with male genitalia but oligospermia. This review examines the pathophysiology, presentation, diagnosis, and management of AIS. Its goal is to prepare the advanced practice registered nurse to recognize AIS, facilitate its diagnosis, and contribute to the multidisciplinary team needed for effective management.