Treatment of congenital anomalies in girls and women.

The presence of a Y chromosome in patients with gonadal dysgenesis requires removal of the streak gonads for fear of tumor formation, the most likely one a gonadoblastoma. When estrogen-progestin replacement is given to patients with gonadal dysgenesis, sampling of the endometrium at regular intervals should be done in order to screen for endometrial hyperplasia. Obstructive lesions of the müllerian ducts should be diagnosed promptly to allow egress of the menstrual flow and preserve reproductive function. It is advisable to delay construction of an artificial vagina for patients with congenital absence of the vagina until such time as the patient is interested in sexual activity and motivated sufficiently to use a vaginal form on a regular basis postoperatively. Genetic females with ambiguous external genitalia should be evaluated carefully to make sure that they do not have the salt-losing variety of the adrenogenital syndrome, which can be life threatening.