Endocrine Abstracts

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex to produce glucocorticoids. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood. Mutations of the ACTH receptor (melanocortin 2 receptor, MC2R) or the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 & 2 ...