Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism

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@article{e128a6aab24d4852a6d4ab35ac1c803c,
title = "Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism",
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.",
author = "Karl-Heinz Storbeck and Lina Schiffer and Elizabeth Baranowski and Vasileios Chortis and Alessandro Prete and Lise Barnard and Lorna Gilligan and Angela Taylor and Jan Idkowiak and Wiebke Arlt and Cedric Shackleton",
note = "Copyright {\textcopyright} 2019 Endocrine Society.",
year = "2019",
month = dec,
doi = "10.1210/er.2018-00262",
language = "English",
volume = "40",
pages = "1605--1625",
journal = "Endocrine Reviews",
issn = "0163-769X",
publisher = "The Endocrine Society",
number = "6",

}

RIS

TY - JOUR

T1 - Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism

AU - Storbeck, Karl-Heinz

AU - Schiffer, Lina

AU - Baranowski, Elizabeth

AU - Chortis, Vasileios

AU - Prete, Alessandro

AU - Barnard, Lise

AU - Gilligan, Lorna

AU - Taylor, Angela

AU - Idkowiak, Jan

AU - Arlt, Wiebke

AU - Shackleton, Cedric

N1 - Copyright © 2019 Endocrine Society.

PY - 2019/12

Y1 - 2019/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85075095491&partnerID=8YFLogxK

U2 - 10.1210/er.2018-00262

DO - 10.1210/er.2018-00262

M3 - Article

C2 - 31294783

VL - 40

SP - 1605

EP - 1625

JO - Endocrine Reviews

JF - Endocrine Reviews

SN - 0163-769X

IS - 6

ER -