Background Turner syndrome (TS) presents a high risk of congenital heart defects and may predispose to both obesity and related metabolic complications. Hence the search for new markers as potential early predictors of the metabolic syndrome (MetS) and cardiovascular diseases appears warranted. Objective To assess MMP-1 (matrix metalloproteinase-1), MMP-2 (matrix metalloproteinase-2), MMP-9 (matrix metallopeptidase-9), BDNF (brain-derived neurotrophic factor), GDNF (glial cell line-derived neurotrophic factor), and VEGF (vascular endothelial growth factor) in non-MetS TS girls not treated with growth hormone (GH) vs. healthy short stature girls, and to assess the connection with basic metabolic parameters. Method The concentrations of circulating MMP-1, MMP-2, MMP-9, BDNF, GDNF and VEGF were measured in 12 patients with TS not treated with growth hormone. The control group was composed of 17 girls with non-pathologic short stature. The patients' clinical and biochemical phenotypes were determined by weight, height, total cholesterol, HDL cholesterol, triglycerides, glucose, aminotransferases, IGF1, TSH and fT4. Results There were no differences in mean age, weight, BMI Z-Score, or hSDS between the studied group and the controls; however, they differed in baseline values of ALT (18.2 ± 4.2 vs. 14.2 ± 4.1, p= 0.02), BDNF [29951.5 (26176.9 - 41271.9) vs. 23131.7 (18392.4 - 28313.3), p=0.01] and MMP-2 [91.8 (71.7 - 111.0) vs. 143.6 (123.7 - 244.5), p< 0.001]. BDNF correlated with ALT activity (r = 0.56 p = 0.002) and BMI Z-score (r = 0.38 p = 0.042), while MMP-2 correlated with HDL concentration (r = 0.48 p = 0.029) in all the patients. The analysis of the study group alone revealed significant positive correlations between MMP-9 and TSH (r = 0.74 p = 0.036), BDNF and both ALT (r = 0.73 p = 0.038) and TSH (r = 0.85 p = 0.008), and a negative correlation between MMP-1 and fT4 (r = -0.75 p = 0.032). The control group did not present any significant correlations. Conclusion The higher concentrations of BDNF and lower of MMP-2 found in girls with TS without MetS compared to healthy girls with short stature, could have a major impact on the future "natural" development of the metabolic status. Our findings need further studies.

中文翻译：

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脑源性嗜神经因子、血管内皮生长因子和基质金属蛋白酶作为非生长激素治疗的特纳综合征女孩代谢状态的标志物。

背景特纳综合征 (TS) 具有先天性心脏缺陷的高风险，并可能导致肥胖和相关代谢并发症。因此，寻找新的标志物作为代谢综合征 (MetS) 和心血管疾病的潜在早期预测指标似乎是必要的。目的评估MMP-1（基质金属蛋白酶-1）、MMP-2（基质金属蛋白酶-2）、MMP-9（基质金属肽酶-9）、BDNF（脑源性神经营养因子）、GDNF（胶质细胞源性神经营养因子）因子）和 VEGF（血管内皮生长因子）在未接受生长激素 (GH) 治疗的非 MetS TS 女孩与健康矮身材女孩的对比中，并评估与基本代谢参数的联系。方法 循环 MMP-1、MMP-2、MMP-9、BDNF、在 12 名未经生长激素治疗的 TS 患者中测量了 GDNF 和 VEGF。对照组由17名非病理性身材矮小女孩组成。通过体重、身高、总胆固醇、HDL胆固醇、甘油三酯、葡萄糖、转氨酶、IGF1、TSH和fT4确定患者的临床和生化表型。结果 研究组与对照组的平均年龄、体重、BMI Z-Score 或 hSDS 无差异；然而，它们在 ALT (18.2 ± 4.2 vs. 14.2 ± 4.1, p= 0.02)、BDNF [29951.5 (26176.9 - 41271.9) vs. 23131.7 (18392.4 - 28313.3)、p=0.01] 和 MMP-2 [ 91.8 (71.7 - 111.0) 与 143.6 (123.7 - 244.5)，p < 0.001]。BDNF 与 ALT 活性 (r = 0.56 p = 0.002) 和 BMI Z 分数 (r = 0.38 p = 0.042) 相关，而 MMP-2 与 HDL 浓度相关 (r = 0.48 p = 0. 029) 在所有患者中。仅对研究组的分析显示 MMP-9 与 TSH (r = 0.74 p = 0.036)、BDNF 与 ALT (r = 0.73 p = 0.038) 和 TSH (r = 0.85 p = 0.008) 之间存在显着正相关，并且MMP-1 和 fT4 之间呈负相关 (r = -0.75 p = 0.032)。对照组没有表现出任何显着的相关性。结论 与身材矮小的健康女孩相比，在没有 MetS 的 TS 中发现的更高浓度的 BDNF 和更低的 MMP-2 可能对代谢状态的未来“自然”发展产生重大影响。我们的研究结果需要进一步研究。以及 MMP-1 和 fT4 之间的负相关（r = -0.75 p = 0.032）。对照组没有表现出任何显着的相关性。结论 与身材矮小的健康女孩相比，在没有 MetS 的 TS 中发现的更高浓度的 BDNF 和更低的 MMP-2 可能对代谢状态的未来“自然”发展产生重大影响。我们的研究结果需要进一步研究。以及 MMP-1 和 fT4 之间的负相关（r = -0.75 p = 0.032）。对照组没有表现出任何显着的相关性。结论 与身材矮小的健康女孩相比，在没有 MetS 的 TS 中发现的更高浓度的 BDNF 和更低的 MMP-2 可能对代谢状态的未来“自然”发展产生重大影响。我们的研究结果需要进一步研究。