General Medical Information

Androgen Insensitivity Syndrome

Sarah E. Herbert

Androgen insensitivity syndrome, or testicular feminizing syndrome as it also is named, is a type of male pseudohermaphroditism due to peripheral unresponsiveness to androgen. The karyotype is 46,XY, testes are present but generally undescended, and there are no müllerian duct structures. These children have female-appearing genitalia if there is CAI; ambiguous genitalia may indicate only partial androgen insensitivity. The initial diagnosis may not be made until they present with amenorrhea in the adolescent years. There is breast development, but pubic and axillary hair is minimal.

Research suggests that these young women have a female gender identity and typically feminine gender role behaviors. Their sexual orientation has been found to be heterosexual for the gender of rearing. This apparently has been true for girls with only partial androgen insensitivity who have some degree of masculinization of their external genitalia.

Increased psychiatric, psychosocial, or cognitive problems have not been reported to be associated with this sexual differentiation disorder. This is remarkable in that the issues of prime importance are potentially quite upsetting to an adolescent girl’s identity and image of her body. An adolescent girl diagnosed with CAI would learn that she is not only behind her peers in physical development, but she will never have periods, nor will she be able to conceive a child. She also would learn at this time that surgery will be required to remove her potentially carcinogenic gonads, and she will require vaginal dilatation or surgery to have comfortable sexual intercourse. A recent article on long-term psychological evaluation of intersex children did, however, find more evidence of psychiatric problems than had been previously thought. Approximately half of the girls who looked completely female at birth (12 of 14 had CAI) exhibited some type of psychopathology, including depression, anxiety disorders, sexual problems, oppositional defiant disorder, and mental retardation. One of the eight individuals with partial androgen insensitivity not only had depression and sexual problems, but also showed evidence of a gender identity disorder.