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.

在这篇综述中，我们全面概述了类固醇分析在诊断明显库欣综合征和轻度自主皮质醇分泌方面的应用。

库欣综合征的诊断是通过一个多步骤的过程进行的，包括确认内源性皮质醇增多症，然后确定其原因。应用于血清或尿液类固醇及其代谢物的类固醇代谢组学测试可以为类固醇生物合成和代谢的改变及其原因提供额外的和新的见解。特别是，基于质谱的类固醇分析的可用性和进步，加上基于机器学习的算法，促进了针对自主皮质醇分泌的定制诊断和分型方法的开发，并可能有助于检测低级别自主糖皮质激素分泌和预测和监测疾病严重程度和相关合并症。