Abstract: 45，X/46，XY mosaic disorders of sexual development (DSDs) is a rare but very challenging disease， which may be related to the micro-deletions of Y chromosome，and the mutation or abnormal adjustments of SRY and other sex-determination genes. The main characteristics of clinical phenotype are dysplasia of the external genital organs and gonad，short stature and phenotypic abnormalities associated with Turner syndrome. It can be clearly diagnosed through cellular and molecular genetic test. The external masculinization score，hormonal levels，imaging test，laparoscopic exploration and pathology of gonads are of great significance to guide the subsequent therapy. There are still many controversies about the gender distribution，hormone replacement therapy，methods and time of resection of sexual gland and other surgical intervention. The principles of multidisciplinary diagnosis and individualized treatment has gradually become a consensus. This consensus should be better implemented in clinical practice.

Key words: Turner syndrome, Gonadal dysgenesis, XY, Chimera, Diagnosis, Therapy