The molecular pathogenesis of ACTH insensitivity syndromes.
ACTH insensitivity results from a group of rare autosomal recessive genetic defects. Familial glucocorticoid deficiency is one of these syndromes in which about half of all cases have inactivating mutations of the ACTH receptor. The remaining patients with this syndrome have defects in one or more other as yet unidentified genes that are unlinked to the ACTH receptor. The triple A syndrome is a distinct clinical syndrome which includes alacrima (absence of tears), achalasia and various neurological defects in addition to ACTH insensitivity. In all cases the defect lies in a gene located on chromosome 12.
Clark
A J
AJ
Molecular Endocrinology Laboratory, Department of Endocrinology, St Bartholomew's and the Royal London School of Medecine & Dentistry, London EC1A 7BE, UK. a.j.clark@mds.qmw.ac.uk
Metherell
L
L
Swords
F M
FM
Elias
L L
LL
D000324:Adrenocorticotropic Hormone / Q000494:pharmacology*; D002881:Chromosomes, Human, Pair 12; D003937:Diagnosis, Differential; D004351:Drug Resistance / Q000235:genetics*; D005938:Glucocorticoids / Q000172:deficiency; D006801:Humans; D009154:Mutation; D018043:Receptors, Corticotropin / Q000235:genetics*; D013577:Syndrome
D005938:Glucocorticoids; D018043:Receptors, Corticotropin; D000324:Adrenocorticotropic Hormone