Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report

Doctor Swyer described two women whom had a 46, XY karyotype, tall stature, primary amenorrhea, female external genitalia, normal vagina (albeit hypoestrogenised) and cervix in 1955 [1]. Individuals with Swyer syndrome are phenotypically female with unambiguously female genital appearance from birth and normal Müllerian structures. The patients usually first become apparent in adolescence with delayed puberty and primary amenorrhea due to the fact that the gonads have no hormonal or reproductive potential. Here, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.A 21 years old patient with a history of primary amenorrhea, 46, XY karyotype, was admitted to the hospital complainging of a low abdominal mass. The patient is 164 cm tall. She has breast development (tanner IV). The pubic hair distribution is adult in type but decrease in total quantity. Her menstruation had not started until she took estradiol valerate and medroxyprogesterone for 15 months, which was prescribed by doctor in her 17 years old. In 19 years old, menstruation started, 6 days at intervals of 23-40 days, blood is ruby-red, sometimes blood clot. However, menstruation disappeared at the age of 20 because she stopped the pills. Chromosome analysis with fluorescence in situ hybridization revealed 46, XY. Color doppler imaging (CDI) showed the uterus was 3.22 × 5.19 × 2.80 cm, thickness of the endometrium was 0.19 cm thick. There was a heterogenetic mixed echo (5.50 × 3.77 cm) behind the cervix. Laboratory investigations showed CA125 was 11.53 U/ml (normal 0.00 ~ 35.00 U/ml), testosterone free (F-TEST) was 34.5 pmol/L (normal 0.77 ~ 33.03 pmol/L), FSH was 56.70 mIU/ml, LH was 21.50 mIU/ml, sex hormone binding globulin (SHBG) was 16.50 nmol/L (normal 18.0 ~ 114.0 nmol/L) and carcino-embryonic antigen (CEA) was 0.55 ng/ml (normal 0 ~ 4.3 ng/ml). Exploratory laparotomy was performed. Surgical findings: The uterus was small (3.0 × 5.0 × 2.0 cm).