Adrenosteroid

Failure of MC2R to activate in response to ACTH causes familial glucocorticoid deficiency (FGD), a rare autosomal recessive disorder characterized by severe cortisol deficiency with high plasma ACTH levels and normal mineralocorticoid levels (see "Causes and clinical manifestations of primary adrenal insufficiency in children", section on 'Familial glucocorticoid deficiency (FGD)' ). MC2R mutations resulting in effective loss of the receptor function are responsible for FGD type 1, which accounts for up to 25 percent of all FGD cases [ 4 ]. The melanocortin receptor accessory protein (MRAP) and its paralogue MRAP2 are small single-pass transmembrane proteins; MRAP is a key accessory factor for the functional expression of the MC2R /ACTH receptor. The clinical observation that 20 percent of FGD cases are due to inactivating MRAP mutations highlights the importance of MRAP in adrenal gland physiology [ 5 ].

Adrenosteroid

adrenosteroid

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adrenosteroid