Abstract
Adrenal steroid biosynthesis comprises a series of dynamically interrelated, enzyme-catalyzed reactions in two separate compartments, the zona glomerulosa and the zona fasciculata/reticularis. End products (cortisol, aldosterone and androgens), together with a proportion of the intermediate compounds, appear in the circulation as a characteristic profile. Rare deficiencies of individual enzymes modify this profile in a recognizable way. Previous exhaustive profiling suggests that their diagnosis can now often be made on the basis of single-compound analyses with concomitant genetic tests. However, high-capacity liquid chromatography coupled with tandem mass spectrometry-based methods are facilitating profiling of large population samples, revealing that smaller differences in enzyme efficiency, indicated by potentially more complex corticosteroid patterns, may be related to clinical wellbeing in a much larger proportion of the population.
Published Version
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