Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia.
Department of Endocrinology, Austin Health, Heidelberg, Victoria, Australia.
Clin Endocrinol (Oxf). 2022 Jul;97(1):3-12. doi: 10.1111/cen.14734. Epub 2022 Apr 15.
Previous studies have suggested a higher prevalence of Klinefelter syndrome amongst transgender individuals. We undertook a systematic review to determine the prevalence of Klinefelter syndrome amongst transgender individuals presumed male at birth and summarize the clinical features and potential treatment implications for individuals with Klinefelter syndrome commencing gender-affirming hormone therapy.
Using preferred reporting items for systematic review and meta-analysis guidelines, we searched EMBASE, MEDLINE and the Cochrane Central Register of Controlled Trials (CENTRAL) up to 31 December 2021. All studies reporting on the prevalence or clinical features of transgender individuals with Klinefelter syndrome were included. This study is registered with the International Prospective Register of Systematic Reviews, number CRD42021227916.
Our search strategy retrieved 11 cohort studies comprising 1376 transgender individuals. In all, 14 of 1376 (1.02%) individuals were diagnosed with Klinefelter syndrome. Based on the seven studies in which karyotype was undertaken in all individuals, the prevalence is 9/1013 (0.88%; 95% CI, 0.41%-1.68%). Case reports highlight unique treatment considerations in this population, including azoospermia, venous thromboembolism, and monitoring of breast cancer and bone health.
Compared to the general population, observational studies document a higher prevalence of Klinefelter syndrome amongst transgender individuals, though underdiagnosis in the general population limits conclusions. Routine karyotype in transgender people initiating gender-affirming hormone therapy is not supported unless clinical features of Klinefelter syndrome, such as small testicular volume, or hypergonadotropic hypogonadism are present. Transgender individuals with Klinefelter syndrome need to manage a unique risk profile if they desire feminizing gender-affirming hormone therapy.
先前的研究表明，跨性别者中 Klinefelter 综合征的患病率较高。我们进行了系统评价，以确定出生时被假定为男性的跨性别者中 Klinefelter 综合征的患病率，并总结 Klinefelter 综合征患者开始性别肯定激素治疗的临床特征和潜在治疗意义。
我们使用系统评价和荟萃分析指南的首选报告项目，在 2021 年 12 月 31 日之前，在 EMBASE、MEDLINE 和 Cochrane 中央对照试验注册中心 (CENTRAL) 中进行了搜索。所有报告 Klinefelter 综合征跨性别者患病率或临床特征的研究均被纳入。本研究已在国际前瞻性系统评价注册中心注册，编号为 CRD42021227916。
我们的搜索策略检索到了 11 项队列研究，共纳入了 1376 名跨性别者。在所有研究中，有 14 名（1.02%）被诊断为 Klinefelter 综合征。基于对所有个体进行核型分析的 7 项研究，患病率为 9/1013（0.88%；95%CI，0.41%-1.68%）。病例报告突出了该人群中独特的治疗注意事项，包括无精子症、静脉血栓栓塞症以及乳腺癌和骨骼健康的监测。
与一般人群相比，观察性研究记录了跨性别者中 Klinefelter 综合征的患病率较高，但一般人群中的漏诊限制了结论。除非存在 Klinefelter 综合征的临床特征，如小睾丸体积或高促性腺激素性腺功能减退症，否则不支持对开始性别肯定激素治疗的跨性别者常规进行核型分析。如果跨性别者希望进行女性化性别肯定激素治疗，则需要管理独特的风险概况。
