Abstract: 45, X/46, XY mosaic, a kind of mixed gonadal dysplasia, is a rare abnormality of sex chromosomes. This mosaic can lead to the developmental disorders of gonad and externalia, short stature, even the malignant degeneration of gonad, which is related to Y chromosome and sex-determining genes. In this paper, we report the clinical data of a 45, X/46, XY mosaic case with female phenotype, including the pathogenesis, clinical manifestations and reproductive problems of the disease. We also review the related literatures in order to increase the understanding, and to treat those patients better.

Key words: Gonadal dysgenesis, mixed；, Chimera；, Karyotype；, Femininity；, Amenorrhea