Steroid Profiling: Analytical Perspectives

Abstract

Steroids may be measured in the clinical laboratory by many different analytical techniques. While it is generally accepted that liquid chromatography tandem–mass spectrometry (LC–MS/MS) is the gold standard technique for the quantification of steroids, gas chromatography/mass spectrometry (GC/MS) remains the favoured technique for the investigation and diagnosis of disorders of steroidogenesis. The following chapter aims to provide the reader with a basic technical understanding of steroid profiling by GC/MS for the specific purpose of diagnosing defects in the adrenal steroid metabolic pathway. This knowledge will aid clinical interpretation of analytical results and provide an awareness of some important pitfalls and diagnostic caveats.