Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism

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dc.contributor.authorStorbeck, Karl-Heinzen_ZA
dc.contributor.authorSchiffer, Linaen_ZA
dc.contributor.authorBaranowski, Elizabeth Sarahen_ZA
dc.contributor.authorChortis, Vasileiosen_ZA
dc.contributor.authorPrete, Alessandroen_ZA
dc.contributor.authorBarnard, Liseen_ZA
dc.contributor.authorGilligan, Lornaen_ZA
dc.contributor.authorTaylor, Angela, E.en_ZA
dc.contributor.authorIdkowiak, Janen_ZA
dc.contributor.authorArlt, Wiebkeen_ZA
dc.contributor.authorShackleton, Cedric H. L.en_ZA
dc.date.accessioned2021-09-08T09:33:29Z
dc.date.available2021-09-08T09:33:29Z
dc.date.issued2019-07-11
dc.descriptionCITATION: Storbeck, K., et al. 2019. Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism, Endocrine Reviews, 40(6):1605–1625, doi:10.1210/er.2018-00262
dc.descriptionThe original publication is available at https://academic.oup.com/edrv
dc.description.abstractSteroid 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.en_ZA
dc.description.sponsorshipWellcome Trust
dc.description.urihttps://academic.oup.com/edrv/article/40/6/1605/5530226
dc.description.versionPublisher’s version
dc.format.extent21 pages
dc.identifier.citationStorbeck, K., et al. 2019. Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism, Endocrine Reviews, 40(6):1605–1625, doi:10.1210/er.2018-00262
dc.identifier.issn1945-7189 (online)
dc.identifier.issn0163-769X (print)
dc.identifier.otherdoi:10.1210/er.2018-00262
dc.identifier.urihttp://hdl.handle.net/10019.1/123007
dc.language.isoen_ZAen_ZA
dc.publisherEndocrine Society
dc.rights.holderAuthors retain rights
dc.subjectSteroid biosynthesisen_ZA
dc.subjectSteroid metabolismen_ZA
dc.subjectSteroids -- Analysisen_ZA
dc.subjectSteroid hormones -- Synthesisen_ZA
dc.subjectAdrenocortical hormonesen_ZA
dc.titleSteroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolismen_ZA
dc.typeArticleen_ZA
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