Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 23, Issue 2, Pages 159-165Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.beem.2008.09.006
Keywords
adrenal failure; neonatal hypoglycaemia; ACTH resistance; melanocortin 2 receptor
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Funding
- Medical Research Council [G0801265, G0600408, G0700581] Funding Source: Medline
- MRC [G0801265, G0700581, G0600408] Funding Source: UKRI
- Medical Research Council [G0801265, G0700581, G0600408] Funding Source: researchfish
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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. (C) 2008 Elsevier Ltd. All rights reserved.
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