Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)
Open accessAbstract
Liquid chromatography tandem mass spectrometry (LC/MS/MS) is replacing classical methods for steroid hormone analysis. It requires small sample volumes and has given rise to improved specificity and short analysis times. Its growth has been fueled by criticism of the validity of steroid analysis by older techniques, testosterone measurements being a prime example. While this approach is the gold-standard for measurement of individual steroids, and panels of such compounds, LC/MS/MS is of limited use in defining novel metabolomes. GC/MS, in contrast, is unsuited to rapid high-sensitivity analysis of specific compounds, but remains the most powerful discovery tool for defining steroid disorder metabolomes. Since the 1930s almost all inborn errors in steroidogenesis have been first defined through their urinary steroid excretion. In the last 30 years, this has been exclusively carried out by GC/MS and has defined conditions such as AME syndrome, glucocorticoid remediable aldosteronism (GRA) and Smith-Lemli-Opitz syndrome. Our recent foci have been on P450 oxidoreductase deficiency (ORD) and apparent cortisone reductase deficiency (ACRD). In contrast to LC/MS/MS methodology, a particular benefit of GC/MS is its non-selective nature; a scanned run will contain every steroid excreted, providing an integrated picture of an individual's metabolome. The "Achilles heel" of clinical GC/MS profiling may be data presentation. There is lack of familiarity with the multiple hormone metabolites excreted and diagnostic data are difficult for endocrinologists to comprehend. While several conditions are defined by the absolute concentration of steroid metabolites, many are readily diagnosed by ratios between steroid metabolites (precursor metabolite/product metabolite). Our work has led us to develop a simplified graphical representation of quantitative urinary steroid hormone profiles and diagnostic ratios.
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Similar information to 24-h urine collections can be obtained from GC/MS analysis of spot urines.
“Although the data in our study were based on 24-h urine collections, similar information can be obtained from a GC/MS analysis of spot urines (25).”
From Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency (2012) · cites this paper as [25]
Urinary steroid profiling using GC-MS permits analysis of multiple corticosteroids and their metabolites from a single urine sample.
“Urinary steroid profiling using GC-MS permits the analysis of multiple corticosteroids and their metabolites from a single urine sample (347) (Fig. 9).”
From Adrenal incidentaloma (2020) · cites this paper as [347]
Scanned GC-MS data can be stored indefinitely for future research.
“Importantly, scanned data can be stored indefinitely for future research (347).”
From Adrenal incidentaloma (2020) · cites this paper as [347]
GC-MS has advantages over LC-MS/MS in the research environment, including better chromatographic resolution permitting characterization of structures, and use in scan mode allows nontargeted steroid profiling and discovery of novel compounds, metabolomes, and pathways.
“However, GC-MS has several advantages, particularly in the research environment, over LC-MS/MS, including a better chromatographic resolution which permits the ready characterization of structures; use of GC-MS in scan mode allows for nontargeted steroid profiling and the discovery of novel compounds, metabolomes, and pathways of synthesis and metabolism.”
From Adrenal incidentaloma (2020) · cites this paper as [347]
AST and ETIO are measured as representatives of active androgens, while DHEA and 16αOH-DHEA are measured as representatives of direct androgen precursors.
“AST and ETIO are measured as representatives of active androgens, while DHEA and 16αOH-DHEA are measured as representatives of direct androgen precursors (Arlt et al., 2011, Krone et al., 2010).”
From Intracrine androgen biosynthesis, metabolism and action revisited (2018) · cites this paper as Krone et al., 2010
Urine steroid metabolome in PORD shows characteristically increased Preg and Prog metabolites (PD and 5PD), which together with increased metabolites attributed to partial CYP21A2 and CYP17A1 deficiencies establishes the diagnosis.
“The urine steroid metabolome in PORD shows characteristically increased Preg and Prog metabolites (PD and 5PD; Fig. 2C, Table 1), which together with the increased metabolites attributed to partial CYP21A2 and CYP17A1 deficiencies establishes the diagnosis (14, 16, 23, 27) (Table 2).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [14]
Excretion rates of PT, 17HP, and PD are elevated in HSD3B2 deficiency, similar to CYP21A2 deficiency; however, in CYP21A2 deficiency, the 5PT/PTONE ratio is typically low (<1.5), whereas it is high (>35) in HSD3B2 deficiency.
“Surprisingly, excretion rates of PT, 17HP, and PD are elevated, similar to CYP21A2 deficiency; however, in CYP21A2 deficiency, the 5PT/PTONE ratio is typically low (<1.5), whereas it is high (>35) in HSD3B2 deficiency (14, 23) (Table 2).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [14]
Otherwise, the steroid metabolome is largely normal in HSD17B3 deficiency.
“Otherwise, the steroid metabolome is largely normal (14, 23, 62).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [14]
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- Authors
- Krone, N., Hughes, B. A., Lavery, G. G., Stewart, P. M., Arlt, W., & Shackleton, C. H. L.
- Affiliations
- University of Birmingham (GB)
- Corresponding author
- Krone, Nils
- Venue
- The Journal of Steroid Biochemistry and Molecular Biology
- Publisher
- Elsevier BV
- Published
- 2010-08
- Volume
- 121
- Issue
- 3-5
- Pages
- 496-504
- ISSN
- 0960-0760 (ISSN-L)
- PMC
- PMC2941839
- OpenAlex
- W2011956717
- Cited by
- 434
- References
- 24
- Citations by year
- 2026: 14 · 2025: 30 · 2024: 30 · 2023: 27 · 2022: 26 · 2021: 31 · 2020: 40 · 2019: 32 · 2018: 33 · 2017: 33 · 2016: 23 · 2015: 19 · 2014: 28 · 2013: 27 · 2012: 16
- FWCI
- 13.21
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Steroid Biochemistry and Molecular Biology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion, cc-by)
- Spiral (Imperial College London) (submittedVersion, cc-by)
- Funders
- Wellcome Trust
- National Institute for Health and Care Research (NF-SI-0508-10356)
- U.S. Public Health Service (GR079865MA)
- Biotechnology and Biological Sciences Research Council (BB/G023468/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- gas chromatography-mass spectrometry, LC-MS/MS, Smith-Lemli-Opitz syndrome, P450 oxidoreductase deficiency, testosterone measurement
- MeSH terms
- Child, Chromatography, Liquid, Humans, Gas Chromatography-Mass Spectrometry, Steroids, Tandem Mass Spectrometry
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