A 20-year-old female comes to the physician because she has never had a perioD. She has no medical problems, has never had surgery, and takes no medications. Examination shows that she is a tall female with long extremities. She has normal size breasts, although the areolas are pale. She has little axillary hair. Pelvic examination is significant for scant pubic hair and a sho, blind- ended vaginal pouch. Which of the following is the most appropriate next step in the management of this patient?
This patient has the findings that are most consistent with androgen insensitivity syndrome (formerly called testicular feminization syndrome). This syndrome results from genetic defects leading to abnormal androgen receptor function. Patients with androgen insensitivity syndrome are genotypically males (46, XY) but phenotypically females-with breasts and no external male genitaliA. The reason that breasts develop is that estrogens, which are expressed at pubey and which also result from peripheral conversion of androgens, act upon the breast tissues unopposed by androgens because of the androgen receptor defect. This unopposed estrogen leads to breast growth and the resultant breasts are normal sized, although they have undeveloped nipples and pale areolae. There are no internal female organs, because mullerian-inhibiting substance is present during development. There are no external male organs because of the androgen receptor defect. Testicles do exist, but they are intra- abdominal. The gonads have a high rate of malignant degeneration in patients with androgen insensitivity syndrome and therefore, after pubey, they should be removed bilateral gonadectomy. It is impoant to wait until after pubey so that full development can take place. To state that no intervention is necessary (Choice A)is incorrect. If the gonads are not removed from a patient with androgen insensitivity syndrome there is a significant risk that the patient will develop a gonadal malignancy. To perform a unilateral gonadectomy (Choice C) is incorrect. To leave one of the gonads in would still run the risk of malignant degeneration in that gonad. Once pubey has taken place, therefore, both gonads should be removed.
No intervention is necessary
Bilateral gonadectomy
Unilateral gonadectomy
Bilateral mastectomy