Klinefelter syndrome (KS; 47,XXY) is the most common sex chromosome abnormality in males (150 per 100,000 males). The condition leads to hypergonadotropic hypogonadism and ever since the condition was described approximately 80 years ago, testosterone treatment has been the cornerstone in care for individuals with KS. However, KS is associated with an array of health‐related and socioeconomic challenges and it is becoming progressively clear that proper care for boys and men with KS reaches far beyond simply supplementing with testosterone. There are no widely implemented guidelines for KS care, and studies investigating crucial aspects of testosterone treatment in individuals with KS, including both beneficial and potentially adverse effects, have only begun to emerge during the last decades. For this descriptive review, we present an overview of literature describing health‐related outcomes of testosterone treatment in KS and outline the clinical applications of testosterone treatment in KS. Collectively, beneficial effects of testosterone treatment on overall health in KS are described with few apparent adverse effects. However, larger randomized studies in adult and pediatric patients are warranted to elucidate key aspects of treatment. We stress the implementation of centralized multidisciplinary clinics and the need for a dedicated international guideline to ensure optimal care of boys and men with KS.

中文翻译：

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克兰费尔特综合征的发病率和睾酮治疗的效果。


克兰费尔特综合征 (KS; 47,XXY) 是男性中最常见的性染色体异常（每 100,000 名男性中有 150 人）。这种情况会导致高促性腺激素性性腺功能减退症，自从大约 80 年前描述这种情况以来，睾酮治疗一直是 KS 患者护理的基石。然而，KS 与一系列健康相关和社会经济挑战相关，而且越来越清楚的是，对患有 KS 的男孩和男性的适当护理远远超出了简单地补充睾酮的范围。目前还没有广泛实施的 KS 护理指南，并且在过去几十年中才开始出现研究，调查 KS 患者睾酮治疗的关键方面，包括有益和潜在的不利影响。在这篇描述性综述中，我们概述了描述 KS 睾酮治疗的健康相关结果的文献，并概述了 KS 睾酮治疗的临床应用。总的来说，睾酮治疗对 KS 整体健康的有益影响很少有明显的副作用。然而，有必要对成人和儿童患者进行更大规模的随机研究，以阐明治疗的关键方面。我们强调实施集中多学科诊所以及制定专门的国际指南的必要性，以确保患有 KS 的男孩和男性得到最佳护理。