Center for Congenital Anomalies of the Reproductive Tract

Androgen Abnormality/ Insensitivity

The Center for Congenital Anomalies of the Reproductive Tract at Boston Children's Hospital treats androgen abnormality/insensitivity. This condition results from the body's inability to accept the effects of testosterone.

Women with androgen insensitivity:

• are normal women but have a chromosomal makeup of 46, XY which is typically that of a male
• have normal female external genitalia because their body is unable to process and utilize testosterone appropriately
• have a normal clitoris, urethra and labia; the lower vagina forms normally
• do not have a normal forming upper vagina, cervix and uterus because her body makes MIS (müllerian inhibiting substance) which inhibits the growth of these structures
• have only a lower vagina and will need some form of assistance with the
• creation of a normal functioning vagina
• have gonads which will not function to make eggs because they were originally derived from tissue that functions as testes

Puberty

Women with androgen insensitivity go through puberty normally and have normal development of breasts. Due to a normal lack of processing of testosterone, however, they have scant or no pubic hair.

Treatment

Women with androgen insensitivity will need their gonads removed because they can form a malignancy - gonads are at risk for forming dysgerminoma which is a type of germ cell tumor. Once the gonads are removed, these women need hormonal replacement therapy with estrogen. They do not need progesterone because they do not have a uterus.