Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP).
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A74 Adrenocortical insufficiency
H00256 Familial glucocorticoid deficiency
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06310 CRH-ACTH-cortisol signaling
H00256 Familial glucocorticoid deficiency
Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nurnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJ, Metherell LA
Title
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Rumie H, Metherell LA, Clark AJ, Beauloye V, Maes M
Title
Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
