Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism

Karl-Heinz Storbeck, Lina Schiffer, Elizabeth Baranowski, Vasileios Chortis, Alessandro Prete, Lise Barnard, Lorna Gilligan, Angela Taylor, Jan Idkowiak, Wiebke Arlt, Cedric Shackleton

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)
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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.

Original languageEnglish
Pages (from-to)1605-1625
Number of pages21
JournalEndocrine Reviews
Issue number6
Early online date11 Jul 2019
Publication statusPublished - Dec 2019

Bibliographical note

Copyright © 2019 Endocrine Society.

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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