So far, to the best of our knowledge, 48 cases of P450scc deficiency and 38 pathogenic variants of CYP11A1 have been described (Table 1). Here, CYP11A1 is linked to Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency.