chronic primary adrenal insufficiency inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency https://www.malacards.org/card/inherited_isolated_adrenal_insufficiency_due_to_partial_cyp11a1_deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. GARD:0021143 Orphanet:289548 UMLS:C4707238 MEDGEN:1643960 MONDO:0017337 SCTID:764960005