Mass Spectrometry-Based Steroid Profiling: Meeting Unmet Clinical Needs

Abstract

Despite ongoing concerns regarding its clinical application, mass spectrometry (MS)-based steroid assay represents a promising tool in endocrine research. Recent studies indicate that monitoring the blood levels of individual sterols provides improved diagnostic insight into hyperlipidemia compared with immunoassays routinely used in clinical practice. Hypercortisolism and hyperaldosteronism can also be easily evaluated along with successful subtyping of adrenal diseases using MS-based methods, while metabolic signatures of sex steroids provide experimental evidence of abnormal puberty and male infertility. Many MS-based biological and clinical studies are based on liquid chromatography-mass spectrometry (LC-MS) coupled to electrospray ionization and tandem MS scan modes. However, gas chromatography-mass spectrometry (GC-MS) provides better chromatographic separation. Improved chromatographic resolution enables large-scale steroid profiling to allow a bird-eye view and increase the chances of identifying potent biomarkers in endocrine research. In addition to the technical advantages of MS-based assays over immunoassays, minimizing the sample amounts with acceptable analytical sensitivity and standardization of surrogate materials provides cutting-edge tools for precision and personalized medicine.