Abstract
Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.
Highlights
Doctor Swyer described two women whom had a 46, XY karyotype, tall stature, primary amenorrhea, female external genitalia, normal vagina 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 with 46, XY gonadal dysgenesis are diagnosed in early adolescence with delayed pubertal development
Summary
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]. We report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome. Clinical history 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 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. The tumor was encapsulated with a smooth surface. The cut surface of the tumor was solid, fleshy, lobulated and gray-yellow (Figure 1A). Available prediluted monoclonal antibodies against the following antigens were employed: CK(cell keratin), CD30, PLAP (placental alkaline phosphatase), CD117 (all Thermo Fisher Scientific Inc., Fremont, CA, USA)
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