Faculty of Medicine, University of Leuven, Leuven, Belgium.
Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.
Andrology. 2023 Oct;11(7):1295-1302. doi: 10.1111/andr.13411. Epub 2023 Feb 25.
Although Klinefelter syndrome (KS) is the most frequent sex-hormone disorder, there is ongoing uncertainty about the often associated sex-hormone deficiency, its impact on common comorbidities, and therefore about prevention and treatment. In this study, we focus on bone loss, reported to occur in over 40% of KS patients, and the impact of testosterone replacement therapy (TRT) on this comorbidity.
This single-center retrospective cohort study in a tertiary hospital compared the effect of treatment with TRT to no TRT on evolution of bone mineral density (BMD) in KS patients.
After a medical chart review, a total of 52 KS subjects were included in this study. BMD was measured by dual-energy X-ray absorptiometry (DXA) and expressed as T-scores.
The subjects were divided into three groups, according to TRT. In the subgroup that only started TRT after baseline measurements (mean age 31 years), we observed significant gain in BMD T-score at the lumbar spine (0.58 ± 0.60, p = 0.003; mean gain of 0.62% areal BMD per year) and total femur T-score (0.24 ± 0.39, p = 0.041; mean gain of 0.25% areal BMD per year) after a mean follow-up period of 7.5 years. Compared to untreated subjects, a significant difference in evolution was demonstrated at the lumbar level (+0.58 ± 0.60 vs. -0.14 ± 0.42, p = 0.007). In untreated subjects with normal testosterone levels, a loss of BMD (-0.27 ± 0.37, p = 0.029; mean loss of 0.49% areal BMD per year) at the femoral neck was measured. This decline was equal to the predicted loss seen in the general male population.
TRT results in BMD gain in patients with KS with testosterone deficiency, mainly at the lumbar spine. However, this effect is limited (0.62% per year). Patients who were not treated with TRT because of sufficient endogenous testosterone levels, showed only the predicted age-related bone loss during follow-up. The need for TRT in maintaining bone health in KS should be evaluated on an individual basis according to the degree of sex steroid deficiency.
虽然克氏综合征（KS）是最常见的性激素紊乱症，但对于其常见合并症相关的性激素缺乏症及其影响，以及相应的预防和治疗措施，仍存在诸多不确定性。在这项研究中，我们专注于骨量流失，据报道，超过 40%的 KS 患者存在这种情况，并探讨了睾丸激素替代疗法（TRT）对这种合并症的影响。
本研究旨在通过单中心回顾性队列研究，比较 KS 患者接受 TRT 治疗与不接受 TRT 治疗对骨密度（BMD）变化的影响，该研究在一家三级医院进行。
通过病历回顾，共纳入 52 名 KS 患者进行本研究。采用双能 X 线吸收法（DXA）测量 BMD，并以 T 评分表示。
根据 TRT 的应用情况，将患者分为三组。在仅在基线测量后开始 TRT 的亚组中（平均年龄 31 岁），我们观察到腰椎 BMD T 评分（0.58 ± 0.60，p = 0.003；每年 BMD 面积增加 0.62%）和全股骨 BMD T 评分（0.24 ± 0.39，p = 0.041；每年 BMD 面积增加 0.25%）有显著增加，平均随访 7.5 年后。与未治疗的患者相比，腰椎水平的变化有显著差异（+0.58 ± 0.60 比-0.14 ± 0.42，p = 0.007）。在未接受 TRT 治疗且睾酮水平正常的患者中，股骨颈的 BMD 出现丢失（-0.27 ± 0.37，p = 0.029；每年 BMD 面积丢失 0.49%）。这一损失与一般男性人群的预期损失相当。
TRT 可使 KS 合并睾酮缺乏症的患者 BMD 增加，主要在腰椎水平。然而，这种效果是有限的（每年 0.62%）。由于内源性睾酮水平充足而未接受 TRT 治疗的患者，在随访期间仅出现与年龄相关的预期骨丢失。KS 患者维持骨健康是否需要 TRT，应根据性激素缺乏的严重程度，进行个体化评估。
