Procedure of diagnosis and treatment for disorders of sex development: based on the abundant clinical experiences and more than 400 cases of 46, XY disorders of sex development / 中华实用儿科临床杂志

ABSTRACT

Disorders of sex development (DSD) are a wide range of conditions with diverse features and pathophysiology.These clinical situations can often be difficult to classify,diagnose and treat,particularly in 46,XY DSD cases.A comprehensive differential diagnosis should be based on detailed evaluation of the genitalia,imaging and hormone investigations,as well as the genetics analysis.To achieve a better prognosis,the gonadal function needs to be protected as far as possible in the treatment of choice.As for the adolescent boys with congenital hypogonadotropic hypogonadodism,pulsatile gonadotrophin releasing hormone is superior to human chorionic gonadotrophin in therapeutic efficacy in the induction of puberty,and the latter could considered as an alterative,the course of treatment should be kept for 1 year.In this article,the literatures in this field are reviewed,combined with clinical practice experience from National Center for Children's Health to establish a framework that could assist clinicians to make better diagnosis and treatment decisions for 46,XY DSD.