GLUCOCORTICOID DEFICIENCY

ANALYSIS OF THE MC2R, MRAP, STAR, NNT AND MCM4 GENES

Familial Glucocorticoid Deficiency (FGD) is a rare, potentially lethal disorder, caused by the failure of the adrenal cortex to respond appropriately to stimulation by ACTH to produce cortisol. The disease is characterised by isolated glucocorticoid deficiency and patients exhibit low or undetectable serum cortisol with high plasma ACTH levels. Affected individuals typically present in the neonatal period with symptoms related to cortisol deficiency, including recurrent infections, hypoglycaemia, convulsions, skin hyperpigmentation and failure to thrive. The condition is potentially fatal if left untreated and long term recurrent hypoglycaemia can lead to irreversible brain damage causing learning difficulties in addition to other neurological problems.

Autosomal recessive variants in MC2R, MRAP, STAR, NNT and MCM4 account for approximately 60% of familial glucocorticoid deficiency cases (Meimaridou et al. 2013 Molecular and Cellular Endocrinology 371:195-200).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.