CASE REPORT Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation Negar Karimian, M.D., a Saber Ghadakzadeh, M.D., a and Mahdi Eshraghi, M.D. b a Jondishapour University of Medical Sciences, Faculty of Medicine, Ahvaz, Iran; and b Department of Gynecology and Obstetrics, Imam Hospital, Jondishapour University of Medical Sciences, Ahvaz, Iran Objective: To report a rare presentation of Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis. Design: Case report. Setting: Academic gynecology and obstetrics department. Patient(s): A 28-year-old woman with primary amenorrhea. Intervention(s): Laparoscopic gonadectomy. Main Outcome Measure(s): Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterus size, height. Result(s): The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, which is a rare finding in Swyer syndrome. She had developed no gonadal malignancies and, despite receiving estrogen, had remained amenorrheic. Conclusion(s): Further studies should be done on this rare chromosomal condition to find the exact factors affect- ing the uterus size and to improve the ways of inducing puberty in such patients by considering the age of diagnosis in order to help them have a normal sex life and also the ability to carry a fetus in their immature uteruses. (Fertil Steril Ò 2010;93:267.e13–e14. Ó2010 by American Society for Reproductive Medicine.) Key Words: Swyer Syndrome, gonadal dysgenesis, gonadal tumors, primary amenorrhea Patients with pure 46,XY gonadal dysgenesis, known as Swyer syndrome, are phenotypically female with unambiguously female genital appearance at birth and normal Mullerian structures. The condition usually becomes apparent first in adolescence with delayed puberty and amenorrhoea, because the gonads have no hormonal or reproductive potential (1). The patients have no somatic anomalies, normal but undeveloped uterus and fallopian tubes and bilateral rudimentary streak gonads (2–4). A high incidence of gonadoblastoma and germ cell malignancies has been reported; therefore, the current practice is to proceed to gonadectomy once the diagnosis is made (1, 5). Management of Swyer syndrome is in line with other causes of ovarian failure and involves induction of puberty with estrogen to develop secondary sexual characteristics and long-term combined replacement therapy with estrogen and P (1). MATERIALS AND METHODS A 28-year-old woman with pure gonadal dysgenesis exhibited primary amenorrhea. The patient initially had primary amenorrhea, scant pubic and axillary hair, and minimal breast tissue at the age of 20. She had received the diagnosis of Swyer syndrome in a private clinic and had been adminis- tered doses of estrogen to induce puberty. There are no records from her clin- ical condition at that time. The patient was examined in 2008 at the obstetrics and gynecology clinic of Jondishapour University of Medical Sciences Hospital (Imam Hospital), again with the chief complaint of absence of menstrual bleeding. She was 178 cm tall and 75 kg, with Tanner stage IV breast development, Tanner stage IV pubic hair growth, a normal vagina and cervix, no apparent somatic abnor- malities, and no clitoral enlargement or any other evidence of virilization. Karyotype studies were performed again to confirm the diagnosis of pure 46,XY gonadal dysgenesis. Laboratory studies showed a serum FSH level of 124 mIU/mL and an LH level of 34 mIU/mL; the T level was within the normal range for women of the same age. RESULTS Sonographic examination did not show any structure resembling a uterus posterior to the bladder. In the abdominal cavity posterior to the abdominal wall, two hypoechoic areas measuring 40  15  13 mm at the right and 35  10  13 mm at the left side of the origin of the inguinal canal of each side were seen and considered as streak gonads. The results of a dual-energy x-ray absorptiometry scan showed osteopenia (T-score, < –1.0). The hip T-score was –1.5, and the spine T-score was –2.0. Laparoscopic gonadectomy was scheduled for the patient. During the operation, a hypoplastic uterus (1  2 cm) was seen along with the connective tissue structures as fallopian tubes on each side hold- ing a piece of tissue (1  2 cm each), which seemed to be the streak Received July 15, 2009; revised September 26, 2009; accepted Septem- ber 28, 2009; published online November 14, 2009. N.K. has nothing to disclose. S.G. has nothing to disclose. M.E. has nothing to disclose. Reprint requests: Negar Karimian, M.D., Golestan St., Jondishapour University of Medical Sciences, Faculty of Medicine, Ahvaz, Iran (FAX: +98 6113383649; E-mail: negar_k_md@yahoo.com). Fertility and Sterility â Vol. 93, No. 1, January 2010 0015-0282/10/$36.00 Copyright ª2010 American Society for Reproductive Medicine, Published by Elsevier Inc. doi:10.1016/j.fertnstert.2009.09.062 267.e13