摘要
46,XY性发育障碍病因复杂,临床表现异质性大,其中女性表型者常于青春期因原发性闭经就诊,难以发现。本文通过3例经基因测序确诊的女性表型者的临床特点进行分析,并对该病的发病机制、临床表现、诊断及治疗等进行文献复习。
The etiology of 46,XY disorders of sex development is complex and the clinical manifestations are various.Patients with a female phenotype often present with primary amenorrhea during adolescence,which is difficult to find.We analyze the clinical features of 3 cases of female phenotype diagnosed by gene sequencing.The pathogenesis,clinical manifestations,diagnosis,and treatment were reviewed.
作者
张晓宁
张松筠
刘现涛
张晓雨
Zhang Xiaoning;Zhang Songyun;Liu Xiantao;Zhang Xiaoyu(Department of Endocrinology,The Second Hospital of Hebei Medical University,Shijiazhuang 050000,China;Second Department of Nephrology,Handan First Hospital,Handan 056002,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2021年第11期1004-1008,共5页
Chinese Journal of Endocrinology and Metabolism
关键词
46
XY性发育障碍
女性表型
诊断
治疗
46,XY disorders of sex development
Female phenotype
Diagnosis
Treatment
