title: Normal adrenocortical response to adrenocorticotrophic hormone in patients with homozygous familial hypercholesterolaemia.
abstract: 1. Plasma cortisol concentration was measured in three subjects with homozygous familial hypercholesterolaemia immediately before, and 30 and 60 min after, an intramuscular injection of adrenocorticotrophic hormone. The baseline values and the values at 30 and 60 min were within the normal range. 2. We conclude that in the presence of a genetic deficiency of low-density lipoprotein receptors, the human adrenal cortex can respond to a single injection of adrenocorticotrophic hormone with a normal increase in corticosteroid production.
mesh_terms: D000293:Adolescent; D000302:Adrenal Cortex / Q000187:drug effects / Q000378:metabolism; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology*; D000328:Adult; D006720:Homozygote; D006801:Humans; D006854:Hydrocortisone / Q000097:blood*; D006938:Hyperlipoproteinemia Type II / Q000097:blood*; D008077:Lipoproteins, LDL / Q000378:metabolism; D008297:Male; D011956:Receptors, Cell Surface / Q000378:metabolism; D011973:Receptors, LDL; D013997:Time Factors
chemical_list: D008077:Lipoproteins, LDL; D011956:Receptors, Cell Surface; D011973:Receptors, LDL; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone