The pathways of aldosterone, cortisol, and androgen synthesis and the enzymatic steps from the precursor cholesterol are shown. b Adrenal hormonal synthesis and enzyme expression pattern. ZG zona glomerulosa, ZF zona fasciculata, ZR zona reticularis, CYP11B2 aldosterone synthase, CYP17A1 17α-hydroxylase/17,20-lyase, CYP11B1 11β-hydroxylase, CYB5A, cytochrome b5, SULTA1 steroid sulfotransferase type 2A1. 21OHD and 11OHD impair steroidogenesis in the adrenal glands only [1,2,3, 6, 17]. In contrast, severe form of 3βHSD2D causes defects of steroidogenesis in both adrenal glands and gonads [2, 3, 15]. Figure 2 illustrates the pathophysiology of 3βHSD2D.
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