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.
Financial & competing interests disclosure
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.