Abstract
The aim of this presentation is to outline the potential of gas chromatography-mass spectrometry profiling of steroids in the investigation of the endogenous human steroid metabolism. Mass spectrometry currently provides the highest specificity in steroid analysis. The non-invasive and non-targeted GC-MS urinary steroid profiling technique enables the typical metabolomics approach capable of characterizing most steroid related disorders. While enzymatic defects can be diagnosed from spot urine samples in most cases, analysis of 24-hr urinary samples permits determination of hormonal excretion rates or enables diagnostic or therapeutic monitoring of steroid related diseases. Profiling plasma steroids by isotope dilution/GC-MS is a targeted approach, particularly suitable when only minimal plasma amounts are available and/or the highest specificity is required. In conclusion, GC-MS steroid profiling presents a complementary analytical technique whenever highest specificity is required. GC-MS profiling of steroids is also highly recommended as a reasonable initial diagnostic approach – especially in unclear situations – avoiding uncritical and expensive attempts at molecular diagnostic testing.
Published Version
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