Department of Pediatrics, Sapienza University Hospital of Rome, Rome, Italy.
Department of Experimental Medicine, Sapienza University Hospital of Rome, Rome, Italy.
Endocr Metab Immune Disord Drug Targets. 2023;23(1):105-114. doi: 10.2174/1871530322666220704101310.
The syndrome Klinefelter syndrome (KS) is a genetic disorder due to an extra X chromosome in males. Many cases remain undiagnosed until the onset of major manifestations, which include hypergonadotropic hypogonadism and infertility. This condition is associated with many comorbidities that involve the cardiovascular, endocrine, and immune systems. Last but not the least, individuals with KS show a high risk of developing psychiatric and mood disorders in adult age.
While many studies are accessible on KS in adult individuals, the neuroinflammatory condition in adolescent and prepubertal KS individuals is not fully known.
Our study aims to evaluate in prepubertal and adolescent KS individuals, for the first time, the levels of the serum of brain-derived neurotrophic factor (BDNF), nerve growth factor (NGF), cytokines having subtle roles in oxidative processes, and neuroinflammation with respect to the levels of TNF-α, TGF-β, MCP-1, IL-1α, IL-2, IL-6, IL-10, and IL-12 and oxidative stress by employing free oxygen radicals defense and free oxygen radicals test.
We found no changes in NGF and oxidative stress parameters, but BDNF decreased compared to healthy children. Quite interestingly, our data showed reduced levels of IL-2, IL-1α, IL- 12, IL-10, and IL-6 in prepubertal KS children.
The present study discloses disrupted immune system and neurotrophin pathways in KS children.
克氏综合征（KS）是一种由于男性多出一条 X 染色体导致的遗传疾病。许多病例直到出现主要表现时才被诊断出来，这些表现包括促性腺激素性性腺功能减退症和不育症。这种情况与许多涉及心血管、内分泌和免疫系统的合并症有关。最后但并非最不重要的是，KS 患者在成年时表现出很高的发展为精神和情绪障碍的风险。
虽然有许多关于成年 KS 患者的研究，但青春期前和青春期 KS 患者的神经炎症情况尚不完全清楚。
我们的研究旨在首次评估青春期前和青春期 KS 患者的血清脑源性神经营养因子（BDNF）、神经生长因子（NGF）水平，以及细胞因子在氧化过程中的微妙作用和神经炎症，同时评估 TNF-α、TGF-β、MCP-1、IL-1α、IL-2、IL-6、IL-10 和 IL-12 的水平，以及通过利用游离氧自由基防御和游离氧自由基测试评估氧化应激。
我们没有发现 NGF 和氧化应激参数的变化，但 BDNF 水平与健康儿童相比有所降低。有趣的是，我们的数据显示青春期前 KS 儿童的 IL-2、IL-1α、IL-12、IL-10 和 IL-6 水平降低。
本研究揭示了 KS 儿童的免疫系统和神经营养因子途径紊乱。
