Swyer syndrome: an unusual presentation

Abstract

We report a 27-year-old XY female who presented with abdominal pain due to hemoperitoneum from a ruptured abdominal mass. Gonadoblastoma overgrown by endodermal sinus tumor and dysgerminoma was detected. The risk of neoplasia in such cases is discussed.

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

“…Gonadoblastoma develops in >30% of all XY sex-reversal patients, with or without a SRY gene mutation (18). Some cases of gonadoblastoma associated with dysgerminoma have also been described (15,(19)(20)(21). A recent study of three cases of 46,XY sex reversal, of which two had both gonadoblastoma and dysgerminoma, suggested that an alteration of SRY may be required for the development of gonadal tumor, especially dysgerminoma (21).…”

Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype

“…Gonadoblastoma is a gonadal tumor composed of multiple cell nests formed by small and large cells of closely admixed germ cells and sex cord derivatives. This basic pattern may be altered by hyalinization, usually associated with calcification (regressive phase) or overgrowth by neoblastic germ cell elements, usually a dysgerminoma (proliferative phase) 4 . Dysgerminoma tissue usually occupies major parts of the tumor, and gonadoblastic cell nests are often seen in the periphery of the tumor due to the overgrowth of the large cells 1,2 …”

“…Seventy five percent of the gonadal tumors arising in dysgenetic gonads are gonadoblastoma, 11 or a Y chromosome was detected in more than 90% of the gonadoblastoma cases reviewed by Scully 12 . Further, the risk of gonadoblastoma in XY females ranges from 25 to 70% 4 . It becomes greater with advancing age reaching 50–70% at the third decade and 80% at the age of 40 years 7 .…”

“…This basic pattern may be altered by hyalinization, usually associated with calcification (regressive phase) or overgrowth by neoblastic germ cell elements, usually a dysgerminoma (proliferative phase). 4 Dysgerminoma tissue usually occupies major parts of the tumor, and gonadoblastic cell nests are often seen in the periphery of the tumor due to the overgrowth of the large cells. 1,2 Scully 2 reviewed 74 gonadoblastoma cases and found that approximately half of the tumors were overgrown by dysgerminoma as coexisting germ cell tumor as the case presented here and previous data.…”

“…1,2 Scully 2 reviewed 74 gonadoblastoma cases and found that approximately half of the tumors were overgrown by dysgerminoma as coexisting germ cell tumor as the case presented here and previous data. [3][4][5][6][7][8] Other germ cell tumors were observed in only eight cases including embryonal carcinoma, yolk sac tumor and teratoma. 2 A gonadoblastoma usually arises in dysgenetic gonads with a Y chromosome.…”