Abstract:

Sexual reversal syndrome is a kind of hereditary disease whose chromosome sex is not consistent with gonad sex. The incidence is very low, and pathogenesis is unknown. The related clinical manifestations are different. This paper report a patient with 46, XY chromosome karyotype, but her gender, internal and external genitalia are female, and the right ovary is accompanied by gonadoblastoma and dysgerminoma, in order to provide some new clinical ideas for the diagnosis, treatment and research of sex reversal syndrome.

Key words: Gonadal dysgenesis, 46, XY, Gonadoblastoma, Dysgerminoma, Genes, sry, Sex-determining region Y protein, Sexual reversal syndrome