Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy.
Department of Endocrinology and Metabolic Diseases, University of Bari, Bari, Italy.
J Endocrinol Invest. 2017 Jul;40(7):705-712. doi: 10.1007/s40618-017-0619-9. Epub 2017 Mar 3.
Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6-3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4-17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9-17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear.
克氏综合征（KS）是男性不育最常见的遗传原因之一。这种情况与多种合并症相关，并导致预期寿命缩短。本综述的目的是更深入地探讨与 KS 相关的心血管和代谢紊乱。KS 患者患脑血管疾病的风险增加（标准化死亡率比，SMR，2.2；95%置信区间，CI，1.6-3.0），但尚不清楚死亡原因是血栓性还是出血性。心血管先天性异常（SMR，7.3；95%CI，2.4-17.1）和血栓形成或腿部溃疡的发展（SMR，7.9；95%CI，2.9-17.2）在这些患者中也更为常见。此外，心血管异常至少可以部分通过睾酮替代疗法（TRT）得到逆转。KS 患者也有更高的内分泌和/或代谢疾病的可能性，尤其是肥胖、代谢综合征和 2 型糖尿病。TRT 对这些异常的影响尚不完全清楚。
