artículo
Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein
Fecha
2007Registro en:
10.1530/EJE-07-0242
0804-4643
MEDLINE:17893271
WOS:000250335600022
Autor
Rumie, H.
Metherell, L. A.
Clark, A. J. L.
Beauloye, V.
Maes, M.
Institución
Resumen
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.