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

Departamento de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile, ¹ William Harvey Research Institute, Centre for Endocrinology, Barts and the London, Queen Mary, University of London, London, UK and ² Division of Pediatric Endocrinology, Cliniques Universitaires St Luc, UCL, 10, Avenue Hippocrate, 1200 Brussels, Belgium

(Correspondence should be addressed to M Maes; Email: maes{at}pedi.ucl.ac.be)

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.