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Review
. 2013 May 22;371(1-2):195-200.
doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.

Familial glucocorticoid deficiency: New genes and mechanisms

Eirini Meimaridou  1 , Claire R Hughes, Julia Kowalczyk, Leonardo Guasti, J Paul Chapple, Peter J King, Li F Chan, Adrian J L Clark, Louise A Metherell
Affiliations
Review

Familial glucocorticoid deficiency: New genes and mechanisms

Eirini Meimaridou et al. Mol Cell Endocrinol. .

Abstract

Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused by defects in the receptor for ACTH (MC2R) or its accessory protein (MRAP) VSports手机版. Certain mutations in the steroidogenic acute regulatory protein (STAR) can also masquerade as FGD. Recently mutations in mini chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT), genes involved in DNA replication and antioxidant defence respectively, have been recognised in FGD cohorts. These latest findings expand the spectrum of pathogenetic mechanisms causing adrenal disease and imply that the adrenal may be hypersensitive to replicative and oxidative stresses. Over time patients with MCM4 or NNT mutations may develop other organ pathologies related to their impaired gene functions and will therefore need careful monitoring. .

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