[1]巩纯秀,李乐乐.46,XY性发育异常的内分泌评估及治疗[J].临床小儿外科杂志,2019,18(03):172-177.[doi:10.3969/j.issn.1671-6353.2019.03.003]
　Gong Chunxiu,Li Lele.Evaluation and Treatment of 46,XY Disorders of Sex Development[J].Journal of Clinical Pediatric Surgery,2019,18(03):172-177.[doi:10.3969/j.issn.1671-6353.2019.03.003]
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46,XY性发育异常的内分泌评估及治疗

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 第18卷 期数: 2019年03期 页码: 172-177 栏目: 专家笔谈 出版日期: 2019-03-25
Title:
Evaluation and Treatment of 46,XY Disorders of Sex Development
作者:
巩纯秀;  李乐乐
国家儿童医学中心首都医科大学附属北京儿童医院内分泌遗传代谢科(北京市, 100045)
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
关键词:
性发育异常; 诊断; 治疗
Keywords:
Disorders of Sex Development; Diagnosis; Treatment
分类号:
R726.9;R588
DOI:
10.3969/j.issn.1671-6353.2019.03.003
摘要:
46，XY DSD是指染色体核型为46，XY但性腺性别和（或）表型性别与之不相匹配的一类先天性异常疾病。由于该病是一系列难以归类、难以诊断的复杂性疾病，具有高度的遗传异质性，个体间临床表现差异较大，因此其临床诊治困难。任何影响睾丸分化、睾酮合成或作用的因素都可导致46，XY DSD的形成。在临床工作中，应综合考虑患儿外生殖器评估情况、影像学检查（B超及核磁）结果、性腺轴及垂体其他轴系功能评估结果（儿童特殊阶段依赖和选择好适当的激发试验）对不同病因进行鉴别诊断。基因检测虽然可以对明确诊断起到至关重要的作用，但必须通过临床表现解释其致病性。恰当的治疗需要内分泌科、泌尿外科、整形外科、医学心理科、遗传学科等多学科共同参与合作。
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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备注/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

更新日期/Last Update: 1900-01-01