HSD3B2, CYP17A1, CYP21A2, CYP11B1 and POR mutations give rise to four variants of congenital adrenal hyperplasia (OMIM 201810, 202110, 201910, 202010, and 201750 respectively) and CYP11B2 mutations give rise to hypoaldosteronism (OMIM 203400) (Fig. 1B) (Miller & Auchus 2011). Here, CYP11B1 is linked to congenital adrenal hyperplasia.