Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-UNIFESP), São Paulo, SP, Brasil.
Instituto de Química de São Carlos da Universidade de São Paulo (IQSC-USP), São Carlos, SP, Brasil.
Arch Endocrinol Metab. 2021 Nov 1;64(6):654-663. doi: 10.20945/2359-3997000000300. Epub 2020 Oct 21.
Metabolomics uses several analytical tools to identify the chemical diversity of metabolites present in organisms. These metabolites are low molecular weight molecules (<1500 Da) classified as a final or intermediary product of metabolic processes. The application of this omics technology has become prominent in inferring physiological conditions through reporting on the phenotypic state; therefore, the introduction of metabolomics into clinical studies has been growing in recent years due to its efficiency in discriminating pathophysiological states. Regarding endocrine diseases, there is a great interest in verifying comprehensive and individualized physiological scenarios, in particular for growth hormone deficiency (GHD). The current GHD diagnostic tests are laborious and invasive and there is no exam with ideal reproducibility and sensitivity for diagnosis neither standard GH cut-off point. Therefore, this review was focussed on articles that applied metabolomics in the search for new biomarkers for GHD. The present work shows that the applications of metabolomics in GHD are still limited, since the little complementarily of analytical techniques, a low number of samples, GHD combined to other deficiencies, and idiopathic diagnosis shows a lack of progress. The results of the research are relevant and similar; however, their results do not provide an application for clinical practice due to the lack of multidisciplinary actions that would be needed to mediate the translation of the knowledge produced in the laboratory, if transferred to the medical setting.
代谢组学使用多种分析工具来鉴定存在于生物体中的代谢物的化学多样性。这些代谢物是低分子量分子（<1500 Da），被归类为代谢过程的最终或中间产物。该组学技术的应用在通过报告表型状态来推断生理状况方面变得突出，因此，由于其在区分病理生理状态方面的效率，代谢组学在临床研究中的应用近年来一直在增长。对于内分泌疾病，人们非常感兴趣的是验证全面和个体化的生理情况，特别是对于生长激素缺乏症（GHD）。目前的 GHD 诊断测试繁琐且具有侵入性，而且对于诊断既没有理想的重复性也没有敏感性的检查，也没有标准的 GH 截止值。因此，这篇综述重点关注了应用代谢组学寻找 GHD 新生物标志物的文章。目前的工作表明，代谢组学在 GHD 中的应用仍然有限，因为分析技术的补充性低、样本数量少、GHD 与其他缺乏症相结合以及特发性诊断表明缺乏进展。研究结果是相关且相似的；然而，由于缺乏多学科行动来介导实验室产生的知识的转化，如果将其转移到医疗环境中，这些结果不能为临床实践提供应用。
