CYP11A1 and acute adrenal insufficiency: Here, we present the case of an infant with two frameshift pathogenic variants—NM_000781.3(CYP11A1):c.358del (p.Arg120Aspfs*18) in exon 2 and NM_000781.3(CYP11A1):c.835del (p.Ile279Tyrfs*10) in exon 5 in the CYP11A1 gene—causing primary adrenal insufficiency, early salt-wasting and adrenal crisis, and complete 46, XY sex reversal.