Abstract 【Objective】 To investigate the etiology, diagnosis and treatment options of 46, XY, disorders of sex development (DSD). 【Methods】 Retrospective analysis of general information of physical examination, auxiliary examination and treatment information of the four pathologically confirmed 46, XY,DSD patients, who were admitted to Hunan Maternal and Child Health Hospital in 2018. 【Results】 Of the four patients with 46,XY,DSD, two patients were diagnosed with 46,XY, simple gonadal hypoplasia, and two were diagnosed with 46,XY,complete androgen insensitivity syndrome (CAIS). In general patients have normal growth and intelligence, however, they had primary amenorrhea, no female secondary sexual characteristics in adolescence, lack or sparse genitalia and axillary hair, underdeveloped breasts, and immature internal and external genitalia. For 46, XY, and DSD patients, it was recommended to perform whole exome sequencing test and SRY gene test.【Conclusion】 After the diagnosis of 46, XY, DSD is clear, gender assignment is one of the most important and difficult issues. Based on the diagnosis and the comprehensive assessment of a multidisciplinary teams, respect of the parents' participation and decision making, and protection of patient privacy, the experienced surgeons should clearly explain to patients and their families with possible surgical options and outcomes, patient's sex psychology, risk of gonadal tumors, possible reproductive potential, and hormone replacement therapy during adolescence.
2020, Vol. 37 
