Steroid biosynthesis and metabolism are reflected by the serum
steroid metabolome and, in even more detail, by the 24-hour urine
steroid metabolome, which can provide unique insights into alterations of
steroid flow and output indicative of underlying conditions. Mass spectrometry-based
steroid metabolome profiling has allowed for the identification of unique multisteroid signatures associated with disorders of
steroid biosynthesis and metabolism that can be used for personalized approaches to diagnosis, differential diagnosis, and prognostic prediction. Additionally,
steroid metabolome analysis has been used successfully as a discovery tool, for the identification of novel steroidogenic disorders and pathways as well as revealing insights into the pathophysiology of adrenal disease. Increased availability and technological advances in mass spectrometry-based methodologies have refocused attention on
steroid metabolome profiling and facilitated the development of high-throughput
steroid profiling methods soon to reach clinical practice. Furthermore,
steroid metabolomics, the combination of mass spectrometry-based
steroid analysis with machine learning-based approaches, has facilitated the development of powerful customized diagnostic approaches. In this review, we provide a comprehensive up-to-date overview of the utility of
steroid metabolome analysis for the diagnosis and management of inborn disorders of steroidogenesis and autonomous adrenal
steroid excess in the context of adrenal
tumors.