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

Abstract

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.

Swyer syndrome: The gender swayer?

“…Patients with Swyer syndrome present with an incomplete or absent masculinization due to abnormalities in the production of testosterone and Mu¨llerian-inhibiting factor. 6 Molecular and genetic abnormalities associated with Swyer syndrome include mutations in the ARX, ATRX, CBX2, DHH, DMRT1, GATA4, MAMLD1, MAP3K1, NR0B1, NR5A1, SOX9, WNT4, WT1, WWOX, SRY, and WNT4 genes. The SRY gene is deleted in approximately 10-15%, and mutated in an additional 10-15%, of patients.…”

Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

“…In the second month of pregnancy, the initial stage of testicular formation requires the function of several genes, the most important of which is SRY (Sex-determining region Y chromosome) [21]. SRY gene mutation is approximately 10-20% of complete gonadal dysgenesis cases [1,20]. SRY gene expression is crucial in initiating male sex determination by triggering undifferentiated gonadal tissue to transform into testes.…”

“…Disorders of sex development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, and anatomical sex [1]. 46,XY gonadal dysgenesis consists of various clinical conditions in which fetal gonadal development is abnormal and it includes both partial and complete forms [2].…”

“…46,XY gonadal dysgenesis partial forms are characterized by partially developed internal ducts with a variable degree of testicular development and testicular function [2,3]. Patients with complete gonadal dysgenesis are phenotypically women with fully or partially developed Miller wire structures and dysgenetic gonads [1].…”

Imaging Evaluation of Disorders of Sex Development

“…Pure 46, XY gonadal dysgenesis or Swyer syndrome was first described by Swyer in 1955 with an incidence of ~1 in 80,000 births. 22 About 10 to 15% of individuals show mutations in the SRY gene. This disorder is characterized by completely dysgenetic or streak gonads that do not produce hormones.…”