The genetics of familial glucocorticoid deficiency.
Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and--because of the failure of the negative feedback loop to the pituitary and hypothalamus--grossly elevated ACTH levels. About half of all cases result from mutations in the ACTH receptor (melanocortin 2 receptor) or from mutations in the melanocortin 2 receptor accessory protein (MRAP), but other genetic causes of this potentially lethal disorder remain to be discovered.
Clark
Adrian J L
AJ
Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine & Dentistry, London, UK. a.j.clark@qmul.ac.uk
Chan
Li F
LF
Chung
Teng-Teng
TT
Metherell
Louise A
LA
D000324:Adrenocorticotropic Hormone / Q000502:physiology; D000818:Animals; D004195:Disease Models, Animal; D004700:Endocrine System Diseases / Q000175:diagnosis / Q000235:genetics*; D005938:Glucocorticoids / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D051379:Mice; D044103:Receptor, Melanocortin, Type 2 / Q000172:deficiency / Q000235:genetics
D005938:Glucocorticoids; D044103:Receptor, Melanocortin, Type 2; D000324:Adrenocorticotropic Hormone