Athimulam Shobana, Grebe Stefan, Bancos Irina
Department of Medicine, Division of Endocrinology, Diabetes, Bone and Mineral Disorders, Henry Ford Health System, Detroit, MI, USA.
Department of Laboratory Medicine and Pathology, Division of Clinical Biochemistry and Immunology, Mayo Clinic, Rochester, MN, USA; Department of Medicine, Division of Endocrinology, Diabetes, Metabolism and Nutrition, Mayo Clinic, Rochester, MN, USA.
Best Pract Res Clin Endocrinol Metab. 2021 Jan;35(1):101488. doi: 10.1016/j.beem.2021.101488. Epub 2021 Feb 6.
In this review, we provide a comprehensive overview of the utility of steroid profiling for diagnosis of management of overt Cushing syndrome and mild autonomous cortisol secretion. A diagnosis of Cushing syndrome is made through a multistep process that includes confirmation of endogenous hypercortisolism, followed by determination of its cause. Steroid metabolomic testing applied to serum or urine steroids and their metabolites can provide additional and novel insights into alterations of steroid biosynthesis and metabolism and its causes. In particular, increased availability and advances in mass spectrometry-based steroid analysis, coupled with machine learning-based algorithms, have facilitated the development of tailored diagnostic and subtyping approaches for autonomous cortisol secretion and might be useful for detecting low grade autonomous glucocorticoid secretion and in predicting and monitoring of disease severity and associated comorbidities.
在本综述中，我们全面概述了类固醇谱分析在显性库欣综合征和轻度自主性皮质醇分泌的诊断与管理中的应用。库欣综合征的诊断需经过多步骤过程，包括确认内源性皮质醇增多症，随后确定其病因。应用于血清或尿液类固醇及其代谢物的类固醇代谢组学检测，可提供关于类固醇生物合成和代谢改变及其原因的额外新颖见解。特别是，基于质谱的类固醇分析的可用性增加和技术进步，结合基于机器学习的算法，促进了针对自主性皮质醇分泌的定制诊断和亚型分类方法的发展，可能有助于检测低度自主性糖皮质激素分泌，并用于预测和监测疾病严重程度及相关合并症。
