glucocorticoid deficiency 2
Definition A rare, potentially lethal autosomal recessive disorder (OMIM:607398) characterised by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in infancy or early childhood with episodic hypoglycaemia and other symptoms of cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In some, hypoglycemia may be severe and persistent, leading to serious long-term neurologic damage or death.
Diagnosis Low plasma cortisol, elevated ACTH, normal aldosterone and plasma renin.
Molecular pathology Defects of MRAP, which encodes a melanocortin receptor-interacting protein that regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland, cause glucocorticoid deficiency 2.
Synonym Familial glucocorticoid deficiency type 2