Klinefelter syndrome (KS), which normally presents with a 47,XXY karyotype, is the most common sex chromosome disorder in males. It is also the most common genetic cause of male infertility. KS subjects are typically tall, with small and firm testes, gynecomastia, broad hips, and sparse body hair, although a less evident presentation is also possible. KS is also characterized by a high prevalence of hypogonadism, metabolic syndrome (MetS) and cardiovascular disease. The aim of this article is to systematically review metabolic and the cardiovascular risk factors in KS patients. Hypogonadism has an important role in the pathogenesis of the changes in body composition (particularly visceral obesity) and hence of insulin resistance and MetS, but the association between KS and MetS may go beyond hypogonadism alone. From childhood, KS patients may show an increase in visceral fat with a reduction in lean body mass and an increase in glucose and impaired fat metabolism. Their increased incidence of congenital anomalies, epicardial adipose tissue, and thromboembolic disease suggests they have a higher risk of cardiovascular disease. There is conflicting evidence on the effects of testosterone therapy on body composition and metabolism.

中文翻译：

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Klinefelter综合征的代谢和心血管危险因素。

Klinefelter综合征（KS）通常表现为47，XXY核型，是男性中最常见的性染色体疾病。它也是男性不育的最常见遗传原因。KS受试者通常身材高大，睾丸小而结实，男性女性乳房，臀部较宽，体毛稀疏，尽管表现不太明显。KS的特征还在于性腺机能减退，代谢综合征（MetS）和心血管疾病的患病率很高。本文的目的是系统地评估KS患者的代谢和心血管危险因素。性腺机能减退在机体组成变化（尤其是内脏肥胖）的发病机理中，因此在胰岛素抵抗和MetS的发病机理中具有重要作用，但KS和MetS之间的联系可能不仅限于性腺机能减退。从小，KS患者可能显示出内脏脂肪增加，瘦体重减少，葡萄糖增加和脂肪代谢受损。先天性异常，心外膜脂肪组织和血栓栓塞性疾病的发生率增加，表明他们罹患心血管疾病的风险更高。关于睾丸激素治疗对人体成分和代谢的影响，有相互矛盾的证据。