has material basis in germline mutation in CYP11A1 hereditary disease adrenal gland disorder Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6753 https://www.malacards.org/card/adrenal_insufficiency_congenital_with_46xy_sex_reversal_partial_or_complete_2 XY sex reversal-adrenal failure syndrome XY sex reversal-adrenal failure GARD:0017033 adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete UMLS:C3151055 MEDGEN:462405 OMIM:613743 adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete MONDO:0013400 MESH:C566130 NCIT:C131422 cholesterol side-chain cleavage deficiency DOID:0050546 p450scc deficiency A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. Orphanet:168558 chronic primary adrenal insufficiency 46 XY differences of sex development