Rumié H, Metherell L A, Clark A J L, Beauloye V, Maes M
Departamento de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Eur J Endocrinol. 2007 Oct;157(4):539-42. doi: 10.1530/EJE-07-0242.
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.
家族性糖皮质激素缺乏症（FGD）是一种罕见的遗传性疾病，可能由促肾上腺皮质激素受体（黑皮质素2受体，MC2R）突变引起，称为1型FGD，也可能由MC2R辅助蛋白（MRAP）突变引起，称为2型FGD。我们报告了一名男性患者从出生到成年的病史，该患者为2型FGD，经MRAP基因突变确诊。
