镶嵌体Klinefelter氏综合征误诊分析  

Analysis of misdiagnosis of mosaic Klinefelter syndrome

作　　者：李广伟[1] 孙仲礼 张静[1] 吴会敏[1] 陈霞 高存友 陈敬兰 LI Guang-wei;SUN Zhong-li;ZHANG Jing;WU Hui-min;CHEN Xia;GAO Cun-you;CHEN Jing-lan(Shanghai Jiading District Mental Health Center,Shanghai 201806,China)

机构地区：[1]上海市嘉定区精神卫生中心,201806

出　　处：《临床精神医学杂志》2021年第3期238-240,共3页Journal of Clinical Psychiatry

摘　　要：Klinefelter氏综合征(Klinefelter syndrome,KS)是男性最常见的性染色体异常疾病,罹患精神障碍的风险较高。因其遗传异质性强,临床表现复杂多样等因素,易发生误诊或漏诊。本研究结合2例被误诊的镶嵌体KS患者相关情况,通过文献复习对KS临床表现、诊断及治疗进行讨论和分析,以提高临床精神科医师对此疾病的认识。Klinefelter syndrome(KS)is the most common sex chromosome abnormality in men.In patients with KS,the risk of mental disorder is higher.As KS has strong genetic heterogeneity and complex diverse clinical manifestations,it is prone to misdiagnosis or missed diagnosis.In this study,combined with the related conditions of two misdiagnosed patients with mosaic KS,the clinical manifestations,diagnosis and treatment of KS are discussed and analyzed through literature review in order to improve clinical psychiatrists'awareness of the disease.

关 键 词：镶嵌体Klinefelter氏综合征 误诊 治疗 

分 类 号：R749[医药卫生—神经病学与精神病学]