Gong Chunxiu,Li Lele.Evaluation and Treatment of 46,XY Disorders of Sex Development[J].Journal of Clinical Pediatric Surgery,,18():172-177.[doi:10.3969/j.issn.1671-6353.2019.03.003]
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Evaluation and Treatment of 46,XY Disorders of Sex Development

Journal of Clinical Pediatric Surgery[ISSN:1671-6353/CN:43-1380/R] volume: 第18卷 Number: 2019 03 Page: 172-177 Column: 专家笔谈 Date of publication: 2019-03-25
Author(s):
Gong Chunxiu;  Li Lele
Department of Endocrinology, Genetics, Metabolism and Adolescent Medicine, Beijing Children’s Hospital, the Capital Medical University, National Center for Children’s Health, Beijing, China. 100045
Keywords:
Disorders of Sex Development; Diagnosis; Treatment
CLC:
R726.9;R588
DOI:
10.3969/j.issn.1671-6353.2019.03.003
Abstract:
46,XY disorders of sex development (DSD) refer to a wide range of conditions with diverse features and pathophysiology. Affected patients present with 46,XY karyotype,but their gonad and phenotypic gender are not inconsistent with the genetic gender. Its pathogenesis is complex,and the management is difficult. Any factor that affects the differentiation of testis,the synthesis of testosterone or the function of testosterone may lead to the occurrence of 46,XY DSD. A comprehensive differential diagnosis should be based on detailed evaluation of the genitalia,imaging and hormone investigations (appropriate stimulate tests should be performed in necessity). Genetics analysis,although,is of importance in determining the etiology,but should be combined with clinical manifestations upon analyzing its pathogenicity. Optimal care for DSD patients requires an common efforts made by an experienced multidisciplinary team (MDT) which includes endocrinology,urinary surgery,plastic surgery,clinical genetics,medical psychology ect.

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Memo

收稿日期:2019-02-25。
基金项目:北京市医院管理局儿科学科协同发展中心专项经费资助项目（编号：XTYB201808）；国家重点研发计划项目（编号：YS2016YFSF090276）
通讯作者:巩纯秀,Email:chunxiugong@sina.com

Last Update: 1900-01-01