A 16-Year-Old With Amenorrhea and Delayed Breast Development

Varshini Chakravarthy, MD; Sehar Ejaz, MD


January 14, 2020

Patients with Swyer syndrome are started on hormone replacement therapy, which induces menses, increases the size of the uterus, and aids in the prevention of osteoporosis. There is an incidence of 10%-30% of germ cell tumors in patients who have gonadal dysgenesis that involve the Y chromosome.[9] In particular, gonadoblastoma and dysgerminomas are the most common germ cell tumors seen in patients with Swyer syndrome. Because the risk for germ cell tumor development increases with advancing age, prompt referral to surgery for prophylactic gonadectomy is required. In terms of fertility, patients who have successfully carried pregnancies after in vitro fertilization have been reported.[10]

For patients who present with primary amenorrhea, obtaining a karyotype is essential, because this can often lead to the correct diagnosis. In this case, if the patient's workup had stopped once the initial diagnosis of premature ovarian insufficiency was established, the actual diagnosis would have been missed, with grave consequences for the patient.

Although Swyer syndrome is uncommon, suspicion for gonadal dysgenesis should be high, because early diagnosis is crucial in lowering the risk for gonadal cell tumors. The survival rate has been reported to be 90%-100% in early stages, compared with 54% in a more advanced stage of gonadal cancer.[11]

The patient underwent surgical removal of both ovaries and fallopian tubes. Laparoscopic images obtained during the procedure demonstrated a small uterus and nonfunctional ovaries. Similar findings are shown in the example images below (Figures 1, 2).

Figure 1.

Figure 2.

Ovarian pathology revealed gonadoblastoma with invasive dysgerminoma in both gonads. It also confirmed pure gonadal dysgenesis, which is consistent with the diagnosis of Swyer syndrome. The patient was referred for chemotherapy and was started on replacement hormones. She continues to identify as female and is currently undergoing counseling.


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