PDF(Pubmed)
Abstract：
Klinefelter syndrome (KS) is a male genetic disease caused by the presence of an extra X chromosome, causing endocrine disorders mainly responsible for a high rate of infertility and metabolic disorders in adulthood. Scientific research is interested in identifying new biomarkers that can be predictive or prognostic of alterations strictly connected to KS. Lipocalin-2 (LCN-2, also known as NGAL) is a small protein initially identified within neutrophils as a protein related to innate immunity. Serum LCN-2 estimation seems to be a useful tool in predicting the metabolic complications caused by several pathological conditions. However, little is known about its potential role in infertility conditions. The present pilot study aims to investigate the presence of LCN-2 in the serum of a group of pre-pubertal and post-pubertal children affected by KS, compared to healthy controls. We demonstrated for the first time the presence of elevated levels of LCN-2 in the serum of KS patients, compared to controls. This increase was accompanied, in pre-pubertal KS patients, by the loss of correlation with LH and HDL, which instead was present in the healthy individuals. Moreover, in all KS individuals, a positive correlation between LCN-2 and inhibin B serum concentration was found. Despite the limited size of the sample analyzed, our preliminary data encourage further studies to confirm the findings and to extend the study to KS adult patients, to verify the predictive/prognostic value of LCN-2 as new biomarker for metabolic diseases and infertility associated with the pathology.
摘要：
Klinefelter综合征（KS）是一种由额外的X染色体引起的男性遗传疾病，导致内分泌紊乱的主要原因是成年期不孕和代谢紊乱的发生率很高。科学研究对鉴定新的生物标志物感兴趣，这些生物标志物可以预测或预测与KS严格相关的改变。脂质运载蛋白-2(LCN-2,也称为NGAL)是最初在嗜中性粒细胞内鉴定为与先天免疫相关的蛋白质的小蛋白质。血清LCN-2估算似乎是预测几种病理状况引起的代谢并发症的有用工具。然而,对其在不孕症中的潜在作用知之甚少。本初步研究旨在调查受KS影响的一组青春期前和青春期后儿童血清中LCN-2的存在，与健康对照相比。我们首次证明了KS患者血清中LCN-2水平的升高，与对照组相比。这一增长伴随着，在青春期前KS患者中，由于失去了与LH和HDL的相关性，相反，它存在于健康个体中。此外，在所有KS个体中，LCN-2与血清抑制素B浓度呈正相关。尽管分析的样本大小有限，我们的初步数据鼓励进一步的研究，以证实这一发现，并将研究扩展到KS成年患者，验证LCN-2作为代谢疾病和与病理相关的不孕症的新生物标志物的预测/预后价值。
