ESPE Abstracts

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Mutations of the nicotinamide nucleotide transhydrogenase (NNT) gene have recently been implicated in FGD.Objective and hypotheses: To describe a new case of FGD with combined mineralocorticoid insufficiency and extra adrenal manifestations....