Diagnostic Evaluation of Enzyme Activity Related to Steroid Metabolism by Mass Spectrometry-Based Steroid Profiling

Abstract

Gas chromatography-mass spectrometry (GC-MS) methods have been used extensively in clinical steroid analyses. Evaluating the metabolic ratios of precursors to products by accurate quantification of individual steroid levels in biological samples can reveal the activities of enzymes associated with steroid metabolism. This review article discusses the impact of GC-MS-based steroid profiling on our understanding of the biochemical role of steroids and their metabolic enzymes in hormonedependent diseases, such as congenital adrenal hyperplasia (CAH), cortisol-mediated hypertension, apparent mineralocorticoid excess (AME), male-pattern baldness, and breast and thyroid cancers. Steroid profiling is a comprehensive analytical technique that can be applied whenever the highest specificity is required and may be a reasonable initial diagnostic approach.

A method for determination of one hundred endogenous steroids in human serum by gas chromatography-tandem mass spectrometry.

“…These studies have provided a complex qualitative picture of the urinary steroid metabolome in humans; however, the lack of validation of the methods used remains its weakness. The authors from research group headed by Man-Ho Choi (Molecular Recognition Research Center of Korea Institute of Science and Technology) published a series of extensive metabolomic studies on the GC-MS platform, which were focused on the role of urinary steroids in human physiology and pathophysiology (Ha et al 2009, Choi and Chung 2014, Kim et al 2013, Moon et al 2016). There are few GC-MS/MS studies focused on circulating steroids in humans and other mammals, and all have quantified a limited number of steroids (Courant et al 2010, Hansen et al 2011, Matysik and Schmitz 2015, Nilsson et al 2015, Styrishave et al 2017.…”