Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism
File(s)
Published version
Author(s)
Type
Journal Article
Abstract
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.
Date Issued
2019-12-01
Date Acceptance
2019-06-04
Citation
Endocrine Reviews, 2019, 40 (6), pp.1605-1625
ISSN
0163-769X
Publisher
Oxford University Press
Start Page
1605
End Page
1625
Journal / Book Title
Endocrine Reviews
Volume
40
Issue
6
Copyright Statement
© 2019 Endocrine Society This article has been published under the terms of the Creative Commons Attribution License (CC BY; https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Copyright for this article is retained by the author(s).
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/31294783
PII: 5530226
Subjects
17-BETA-HYDROXYSTEROID DEHYDROGENASE-3 DEFICIENCY
ALDOSTERONE SYNTHASE DEFICIENCY
ANTLEY-BIXLER-SYNDROME
APPARENT MINERALOCORTICOID EXCESS
CHROMATOGRAPHY-MASS SPECTROMETRY
CORTISONE-REDUCTASE DEFICIENCY
CYTOCHROME-P450 OXIDOREDUCTASE DEFICIENCY
Endocrinology & Metabolism
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
Life Sciences & Biomedicine
MUTANT P450 OXIDOREDUCTASE
Science & Technology
X-LINKED ICHTHYOSIS
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2019-07-11