Obstetrics & Gynecology Department, Medicine Faculty, Mashhad University of Medical Sciences, Mashhad, Iran
Introduction: Swyer syndrome is determined by primary amenorrhea, normal external genitalia, and the presence of a vagina, uterus, and 46XY karyotype. The aim of this case report was to introduce a patient with Swyer syndrome referred with pain and an abdominal mass.
Patient Information: This case study was done in Gynecology Clinic of Ghaem Hospital in Mashhad, Iran, in 2015. A single 18-year-old woman came to the clinic with complaints of primary amenorrhea, pain, and abdominal mass underwent laparotomy. Based on her histopathology report which indicated a left ovary dysgerminoma and a right ovary gonadoblastoma, a bilateral salpingo-oophorectomy, followed by chemotherapy, was conducted. The patient was under Bleomycin, Etoposide and Platinum (BEP) chemotherapy and has been living without evidence of recurrence.
Conclusion: A genetic disorder in patients younger than 20 years with an ovarian mass and diagnosis of dysgerminoma should be rejected.
- Swyer GI. Male pseudohermaphroditism: A hitherto undescribed form. BrMed J. 1955;2(4941):709-12. [DOI:10.1136/bmj.2.4941.709] [PMID]
- Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol. 2007;5:71. [DOI:10.1186/1477-7819-5-71] [PMID]
- American Academy of Pediatrics Committee on Adolescence; American College of Obstetricians and Gynecologists Committee on Adolescent HealthCare, Diaz A, Laufer MR, Breech LL. Menstruation in girls and adolescents: using the menstrual cycle as a vital sign. Pediatrics. 2006;118(5):2245-50. [DOI:10.1542/peds.2006-2481] [PMID]
- Guidozzi F, Ball J, Spurdle A. 46, XY pure gonadal dysgenesis (Swyer-James syndrome)-Y or Y not?: A review. Obstet Gynecol Surv. 1994,49(2):138-46. [DOI:10.1097/00006254-199402000-00026] [PMID]
- Behzadian MA, Tho SP, McDonough PG. The presence of the testiculardetermining sequence, SRY, in 46, XY females with gonadal dysgenesis (Swyer syndrome). Am J Obstet Gynecol. 1991;165(6 Pt 1):1887-90. [DOI:10.1016/0002-9378(91)90051-R]
- Sohval AR. The syndrome of pure gonadal dysgenesis. Am J Med. 1965,38:615-25. [DOI:10.1016/0002-9343(65)90137-3]
- Jones HW Jr, Ferguson-Smith MA, Heller RH. The pathology and cytogenetics of gonadal agenesis. Am J Obstet Gynecol. 1963;87:578-600. [DOI:10.1016/0002-9378(63)90051-6]
- Jones HW Jr, Ferguson-Smith MA, Heller RH. Pathologic and cytogenetic findings in true hermaphroditism; report of 6 cases and review of 23 cases from the literature. Obstet Gynecol. 1965;25:435-47.
- Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY. True hermaphroditismand mixed gonadal dysgenesis in young children: A clinicopathologic studyof 10 cases. Mod Pathol. 2002;15(10):1013-9. [DOI:10.1097/01.MP.0000027623.23885.0D] [PMID]
- Taylor H, Barter RH, Jacobson CB. Neoplasms of dysgenetic gonads. Am J Obstet Gynecol. 1966;96(6):816-23. [DOI:10.1016/0002-9378(66)90677-6]
- Coutin AS, Hamy A, Fondevilla M, Savigny B, Paineau J, Visset J. Pure 46XY gonadal dysgenesis. J Gynecol Obstet Biol Reprod (Paris). 1996;25(8):792-6.
- Ben Temime R, Chachial A, Attial L, Ghodbanel I, Makhloufl T, Koubaal A, et al. 46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. Tunis Med. 2008;86(7):710-3.
- Maleki Z, Loveless M, Fraig M. Coexistence of gonadoblastoma anddysgerminoma in a dysgenetic gonad on touch preparation: A case report. Diagn Cytopathol 2010;39(1):42-4. [DOI:10.1002/dc.21359] [PMID]
- Casey AC, Bhodauria S, Shapter A, Nieberg R, Berek JS, Farias-EisnerR. Dysgerminoma: The role of conservative surgery. Gynecol Oncol. 1996;63(3):352-7. [DOI:10.1006/gyno.1996.0335] [PMID]