Swyer syndrome is known as pure gonadal dysgenesis. Individuals with Swyer syndrome are phenotypically female with unambiguously female genital appearance at birth, and normal Mullerian structures. The condition usually first becomes apparent in adolescence with delayed puberty and amenorrhea due to the fact that the gonads have no hormonal or reproductive potential. These individuals are characterized by 46XY karyotype, primary amenorrhea, tall stature, female external genitalia and normal but hypoestrogenised vagina and cervix. A high incidence of gonadoblastoma and germ cell malignancies has been reported in dysgenetic gonads, and therefore, the current practice is to proceed to a gonadectomy once the diagnosis is made. Herein, we report a case of gonadoblastoma and dysgerminoma diagnosed on touch preparation in a dysgenetic gonad of a 16-year-old patient with Swyer syndrome.
- Swyer syndrome
- touch preparation
ASJC Scopus subject areas
- Pathology and Forensic Medicine