Swerdlow Anthony J, Higgins Craig D, Schoemaker Minouk J, Wright Alan F, Jacobs Patricia A
Section of Epidemiology, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom.
J Clin Endocrinol Metab. 2005 Dec;90(12):6516-22. doi: 10.1210/jc.2005-1077. Epub 2005 Oct 4.
Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s). There is limited information about long-term mortality in this syndrome because there have been no large cohort studies.
Our objective was to investigate mortality in men with Klinefelter syndrome.
We obtained data about patients diagnosed with Klinefelter syndrome at almost all cytogenetics centers in Britain, as far back as records were available, and conducted a cohort study of their mortality, overall and by karyotype.
We assessed 3518 patients diagnosed since 1959, followed to mid-2003.
The outcome measure was standardized mortality ratio (SMR).
A total of 461 deaths occurred. There was significantly raised mortality overall [SMR, 1.5; 95% confidence interval (CI), 1.4-1.7] and from most major causes of death including cardiovascular disease (SMR, 1.3; 95% CI, 1.1-1.5), nervous system disease (SMR, 2.8; 95% CI, 1.6-4.6), and respiratory disease (SMR, 2.3; 95% CI, 1.8-2.9). Mortality was particularly raised from diabetes (SMR, 5.8; 95% CI, 3.4-9.3), epilepsy (SMR, 7.2; 95% CI, 3.1-14.1), pulmonary embolism (SMR, 5.7; 95% CI, 2.5-11.3), peripheral vascular disease (SMR, 7.9; 95% CI, 2.9-17.2), vascular insufficiency of the intestine (SMR, 12.3; 95% CI, 4.0-28.8), renal disease (SMR, 5.0; 95% CI, 2.0-10.3), and femoral fracture (SMR, 39.4; 95% CI, 4.8-142.3). Mortality from ischemic heart disease was significantly decreased (SMR, 0.7; 95% CI, 0.5-0.9).
Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes. This may reflect hormonal and genetic mechanisms.
克兰费尔特综合征的特征是性腺功能减退和不育，这是由额外的X染色体导致的。由于缺乏大型队列研究，关于该综合征长期死亡率的信息有限。
我们的目的是调查克兰费尔特综合征男性患者的死亡率。
我们获取了英国几乎所有细胞遗传学中心自记录可查以来诊断为克兰费尔特综合征患者的数据，并对他们的总体死亡率及按核型分类的死亡率进行了队列研究。
我们评估了自1959年以来诊断的3518例患者，随访至2003年年中。
观察指标为标准化死亡比（SMR）。
共发生461例死亡。总体死亡率显著升高[SMR，1.5；95%置信区间（CI），1.4 - 1.7]，大多数主要死因的死亡率也升高，包括心血管疾病（SMR，1.3；95%CI，1.1 - 1.5）、神经系统疾病（SMR，2.8；95%CI，1.6 - 4.6）和呼吸系统疾病（SMR，2.3；95%CI，1.8 - 2.9）。糖尿病（SMR，5.8；95%CI，3.4 - 9.3）、癫痫（SMR，7.2；95%CI，3.1 - 14.1）、肺栓塞（SMR，5.7；95%CI，2.5 - 11.3）、外周血管疾病（SMR，7.9；95%CI，2.9 - 17.2）、肠道血管功能不全（SMR，12.3；95%CI，4.0 - 28.8）、肾脏疾病（SMR，5.0；95%CI，2.0 - 10.3）和股骨骨折（SMR，39.4；95%CI，4.8 - 142.3）的死亡率尤其升高。缺血性心脏病的死亡率显著降低（SMR，0.7；95%CI，0.5 - 0.9）。
诊断为克兰费尔特综合征的患者因多种特定原因导致死亡率升高。这可能反映了激素和遗传机制。
