镶嵌体Klinefelter氏综合征误诊分析

Analysis of misdiagnosis of mosaic Klinefelter syndrome

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.