2. Academic Validation
  3. Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

  • Eur J Endocrinol. 2007 Oct;157(4):539-42. doi: 10.1530/EJE-07-0242.
H Rumié 1,  L A Metherell,  A J L Clark,  V Beauloye,  M Maes
Affiliations

Affiliation

  • 1 Departamento de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
PMID: 17893271 DOI: 10.1530/EJE-07-0242
Abstract

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.

Figures