Clinical Analysis Of 82 Children With Disorders Of Sex Development

Objective: To investigate the clinical characteristics of children with disorders of sex development(DSD)and deepen the understanding of the disease,to preliminarily understand the etiology and characteristics of DSD in children.Methods: Clinical data of 82 children with DSD admitted to the first affiliated pediatric center of Xinjiang medical university from January 2015 to January 2020 were collected,and analyzed retrospectively he clinical features,related examination results and etiology.Results: Of the 82 children with DSD,34 were male,48 were female,male: female=1: 1.41;The age is from 1 month to 15 years old.There were 17 cases of sex chromosome DSD,including 1 case of klinefelter's syndrome and 14 cases of Turner's syndrome.There were 26 cases of 46,XY DSD,including 14 cases of Congenital hypogonadotropic hypogonadism,7 cases of androgenic insensitivity syndrome,2 cases of 5a reductase deficiency,and 3 cases of testicular dysfunction caused by undescended testicles.46,XX DSD children were congenital adrenal cortical hyperplasia.Conclusion: The children with sex chromosome DSD was mainly Turner syndrome.46,XY DSD was mainly Congenital hypogonadotropic hypogonadism.46,XX DSD was mainly characterized by congenital adrenal cortical hyperplasia.The diagnosis of DSD needs to be made after comprehensive evaluation of chromosome karyotype analysis,laboratory examination,ultrasonic examination,genetic testing and other relevant examination results,so there is a high rate of missed diagnosis and misdiagnosis.The treatment of DSD should be selected according to the cause,not only to correct the abnormal sexual development state,but also to clarify the cause and maintain the normal hormone level of children.