Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
Familial glucocorticoid deficiency (FGD) is a rare inherited disorder which may be caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) named FGD type 1 or by mutations in the MC2R accessory protein (MRAP) named FGD type 2. We report the case history of a male patient from birth until adulthood with FGD type 2, confirmed by a mutation of the MRAP gene.
Rumié
H
H
Departamento de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Metherell
L A
LA
Clark
A J L
AJ
Beauloye
V
V
Maes
M
M
D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D001483:Base Sequence; D001827:Body Height; D001835:Body Weight; D004252:DNA Mutational Analysis; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000235:genetics* / Q000503:physiopathology*; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D005938:Glucocorticoids; C458099:MRAP protein, human; D008565:Membrane Proteins; D000324:Adrenocorticotropic Hormone