克兰费尔特综合征伴认知损害及心理障碍的临诊应对  

Approach to the patient with Klinefelter syndrome combined with neuropsychological abnormality

作　　者：施丽丹[1] 蔡梁椿[1] 路荣梅 林纬[1] 黄惠彬[1] 梁继兴[1] 李连涛[1] 温俊平[1] 林丽香[1] 陈刚[1] Shi Lidan;Cai Liangchun;Lu Rongmei;Lin Wei;Huang Huibin;Liang Jixing;Li Liantao;Wen Junping;Lin Lixiang;Chen Gang.(Department of Endocrinology, Fufian Provincial Hospital, Fujian Medical University, Fuzhou 350001, China)

机构地区：[1]福建医科大学省立临床医学院福建省立医院内分泌科,福州350001

出　　处：《中华内分泌代谢杂志》2018年第4期330-335,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：克兰费尔特综合征（Klinefelter syndrome，KS）是男性最常见的性染色体异常疾病，该病是由于遗传了来自父方或母方的额外X染色体所导致的，其中接近80％的染色体核型表现为47，XXY。KS常见的临床表现为：双侧睾丸硬小、高促性腺性性腺功能减退、不育症、男性乳房女性化、身材较高。而由于缺乏神经认知及精神心理方面系统性的筛查，KS患者伴发的神经认知受损及精神心理问题常常被忽略。目前KS患者神经认知受损及精神心理障碍的发病机制还不清楚。本文报道2例KS患者，并对其临床特点、诊断、治疗方面做一文献复习。Klinefeher syndrome （KS） is the most common sex chromosome disorder in males, which is caused by the presence of the extra X chromosome that maybe inherited from mother or father. Approximately 80% karyotype of the cases is 47, XXY. KS is characterized by small firm testes, hypergonadotropic hypogonadism, infertility, gynaecomastia, increased height. However, cognitive disabilities and psychiatric disorders are rarely diagnosed in KS because they lack screening in related aspects. At the present, the pathogenesis of cognitive disabilities and increased risk of psychiatric diseases in KS have not been delineated. In this article, we report two cases of KS, and review their clinical manifestations, diagnosis, and treatments.

关 键 词：克兰费尔特综合征 精神认知 精神病 

分 类 号：R596.1[医药卫生—内科学]