Familial glucocorticoid deficiency: New genes and mechanisms

► Defects in ACTH receptor and steroidogenic pathway genes have previously been associated with FGD. ► New gene defects in MCM4 and NNT have recently been discovered in FGD. ► Novel pathogenetic mechanisms have therefore been recognized in familial glucocorticoid deficiency. ► Getting a genetic diagnosis for patients will be important for correct long term management and treatment of their disease.