Department of Experimental Medicine, Policlinico Umberto I, Sapienza University of Rome, 00161, Rome, Italy.
Department of Endocrinology, Athens Naval & VA Hospital, 11525, Athens, Greece.
Curr Pharm Des. 2020;26(43):5556-5563. doi: 10.2174/1381612826666201102105408.
More than 70 years have passed since the first description of Klinefelter Syndrome (KS), the most frequent chromosome disorder causing male infertility and hypogonadism. KS is associated with increased cardiovascular (CV) mortality due to several comorbidities, including hypogonadism, as well as metabolic syndrome and type 2 diabetes, which are highly prevalent in these patients. Aside from metabolic disturbances, patients with KS suffer from both acquired and congenital CV abnormalities, cerebrovascular thromboembolic disease, subclinical atherosclerosis and endothelial dysfunction, which may all contribute to increased CV mortality. The mechanisms involved in this increased risk of CV morbidity and mortality are not entirely understood. More research is needed to better characterise the CV manifestations, elucidate the pathophysiological mechanisms and define the contribution of testosterone replacement to restoring CV health in KS patients. This review explores the complex association between KS, metabolic syndrome and CV risk in order to plan future studies and improve strategies to reduce mortality in this high-risk population.
自首次描述克莱恩费尔特综合征（KS）以来，已经过去了 70 多年，这是导致男性不育和性腺功能减退症最常见的染色体疾病。由于多种合并症，包括性腺功能减退症以及代谢综合征和 2 型糖尿病，KS 与心血管（CV）死亡率增加有关，这些疾病在这些患者中非常普遍。除了代谢紊乱之外，KS 患者还患有获得性和先天性 CV 异常、脑血管血栓栓塞性疾病、亚临床动脉粥样硬化和内皮功能障碍，所有这些都可能导致 CV 死亡率增加。导致 CV 发病率和死亡率增加的机制尚不完全清楚。需要更多的研究来更好地描述 CV 表现，阐明病理生理机制，并确定睾酮替代治疗对恢复 KS 患者 CV 健康的贡献。本综述探讨了 KS、代谢综合征和 CV 风险之间的复杂关系，以便为未来的研究和改善降低这一高危人群死亡率的策略提供指导。
