Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism.
Journal
Endocrine reviews
ISSN: 1945-7189
Titre abrégé: Endocr Rev
Pays: United States
ID NLM: 8006258
Informations de publication
Date de publication:
01 12 2019
01 12 2019
Historique:
received:
02
11
2018
accepted:
04
06
2019
pubmed:
12
7
2019
medline:
16
4
2020
entrez:
12
7
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31294783
pii: 5530226
doi: 10.1210/er.2018-00262
pmc: PMC6858476
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1605-1625Subventions
Organisme : Medical Research Council
ID : G1001964
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R017913/1
Pays : United Kingdom
Informations de copyright
Copyright © 2019 Endocrine Society.
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