CYP11A1 and familial glucocorticoid deficiency: Indeed, the CYP11A1 rs6161 variant found in our patient, which was initially considered to be benign and has a minor allele frequency in gnomAD of 0.002561 (0.001592 in South Asians), has recently been found to cause isolated glucocorticoid deficiency when combined with a severe loss-of-function CYP11A1 defect, especially in patients from a European lineage (18, 20).