De Sanctis Vincenzo, Fiscina Bernadette, Soliman Ashraf, Giovannini Michela, Yassin Mohamed
Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, 44121 Ferrara, Italy.
Pediatr Endocrinol Rev. 2013 Sep;11(1):44-50.
The classic clinical manifestations of Klinefelter syndrome (KS) are expressions of the primary hypogonadism that causes severe alterations of the reproductive and endocrine functions of the testis. It is a syndrome that causes infertility, and in addition leads to multiple disorders that involve a variety of tissues and organs. Important medical conditions associated with KS are categorized as: 1) motor, cognitive, and behavioral dysfunction; 2) tumors; 3) vascular disease and 4) endocrine/ metabolic and autoimmune diseases. The overall incidence of cancer in men with this syndrome is similar to that of the general population, but some malignancies show a significantly higher prevalence in these patients. It is possible that the increased risk of developing certain cancers can be attributed to a direct effect of the chromosomal abnormality (the supernumerary X chromosome), or the combined action of the abnormal chromosomes and hormonal imbalances. Although data in the literature on cancer and KS are abundant, most of them are individual case reports. Only three epidemiological studies with relatively large cohorts provide data with greater reliability, although each has inherent imitations related to study design. This review paper summarizes the current knowledge about cancer risk from childhood to adulthood in patients with KS.
克兰费尔特综合征（KS）的典型临床表现是原发性性腺功能减退的表现，这种减退会导致睾丸生殖和内分泌功能的严重改变。它是一种导致不育的综合征，此外还会引发涉及多种组织和器官的多种病症。与KS相关的重要医学状况可分为：1）运动、认知和行为功能障碍；2）肿瘤；3）血管疾病；4）内分泌/代谢和自身免疫性疾病。患有该综合征的男性患癌症的总体发生率与普通人群相似，但某些恶性肿瘤在这些患者中的患病率显著更高。患某些癌症风险增加可能归因于染色体异常（多余的X染色体）的直接影响，或者异常染色体与激素失衡的共同作用。尽管文献中关于癌症与KS的数据很多，但大多数都是个别病例报告。只有三项涉及相对较大队列的流行病学研究提供了可靠性更高的数据，不过每项研究都存在与研究设计相关的固有局限性。这篇综述文章总结了目前关于KS患者从儿童期到成年期癌症风险的知识。
