ea0025p301 | Steroids | SFEBES2011
Hughes Claire
, Turan Serap
, Atay Zeynep
, Guran Tulay
, Bereket Abdullah
, Clark Adrian
, Metherell Louise
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by unresponsiveness to ACTH and isolated cortisol deficiency. FGD is caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor (MC2R)), its accessory protein (MRAP) or the steroidogenic acute regulatory protein (StAR). One significant feature is generalized skin hyperpigmentation which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (...