Approach to the patient with Klinefelter syndrome combined with neuropsychological abnormality

VernacularTitle:克兰费尔特综合征伴认知损害及心理障碍的临诊应对
Author: Lidan SHI ^{1
,

2} ; Liangchun CAI ; Rongmei LU ; Wei LIN ; Huibin HUANG ; Jixing LIANG ; Liantao LI ; Junping WEN ; Lixiang LIN ; Gang CHEN
Author Information

1. 350001福州,福建医科大学省立临床医学院,福建省立医院内分泌科
2. 宁德市医院内分泌科
Keywords: Klinefelter syndrome; Cognitive; Psychiatric disorder
From: Chinese Journal of Endocrinology and Metabolism 2018;34(4):330-335
CountryChina
Language:Chinese
Abstract: Klinefelter 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.