Dysgerminoma and gonadoblastoma in the course of Swyer syndrome

Abstract

We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed. The patient did not report for the follow-up visits. Three years later, the woman reported back because of increasing abdominal circumference. The patient underwent an operation. Radical hysterectomy was performed. Histopathological examination showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. This case report presents the natural history of Swyer syndrome.

Is genetic testing required in a child with an ovarian germ cell tumour?

“…Because the external genitalia look normal the disease usually remains undiagnosed for a long time. The most common indications for implementation of genetic diagnostic testing are primary amenorrhoea and a lack of development of secondary sex characteristics [3,4,6,7]. Imaging studies, including pelvic ultrasound or MRI, can be effective diagnostic tools for this group of patients, particularly in identifying hypoplastic uterus and streak gonads [6].…”

“…Genetic tests are preceded by laboratory diagnostics including determination of the level of sex hormones and, based on these results, hypergonadotropic hypogonadism is diagnosed (being the main cause of sexual development disorder) [7,11]. In many cases, patients with complete gonadal dysgenesis are diagnosed only in their adulthood; therefore, an option to identify early indicators of this condition would be particularly useful [4]. Carmen et al suggest that FSH appears to be a valuable screening marker for diseases accompanied by gonadal dysgenesis [7].…”

“…If untreated, the neoplasm may transform into dysgerminoma, i.e. a tumour of an undeniably aggressive nature [3,4]. The group exposed to the highest risk of gonadal neoplasms are patients with disorders of sex development (DSD) [5][6][7][8][9].…”

“…Dysgenetic gonads do not show a typical ovarian structure and usually resemble connective tissue streaks [5,11]. In clinical terms, Swyer syndrome is characterised by the female phenotype, female external and internal genitalia, undeveloped secondary sex characteristics, primary amenorrhoea, and normal body growth [4]. Sex identification is usually female [6].…”

“…An early diagnosis of complete gonadal dysgenesis is difficult, and it is usually established in adolescence when the causes of primary amenorrhoea and a lack of breast development are sought [3,4,6]. For this reason, at the stage when a 46,XY karyotype is found, patients are often already diagnosed with tumours deriving from gonadal dysgenesis (approximately 55%), mainly gonadoblastoma or dysgerminoma [4]. At present the only procedure that protects patients with the 46,XY karyotype against development of cancer is prophylactic gonadectomy [3,5].…”