A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

• Published in: Case reports in oncology 2015-01, Vol.8 (1), p.179-184
• Main Authors: Da Silva Rios, Salete, Mazzaro Monteiro, Isabella Christina, Gonçalves Braz dos Santos, Larissa, Garcia Caldas, Natasha, Rios Chen, Ana Carolina, Rios Chen, Juliana, Spindola Camargo Silva, Helena
• Format: Article
• Language: English
• Subjects: Dysgerminoma; Gonadal tumor; Published: March 2015; Swyer syndrome
• ISSN: 1662-6575; 1662-6575
• DOI: 10.1159/000381451

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.