Generalized glucocorticoid resistance
Glucocorticoid resistance is a syndrome characterized by resistance to glucocorticoid hormones such as cortisol.[1] Primary generalized glucocorticoid resistance is also known as Chrousos syndrome and is an extremely rare condition in which a partial resistance to glucocorticoids throughout the entire body occurs.[1] It is caused by mutations in the gene encoding the glucocorticoid receptor.[1] A characteristic of the syndrome is hypothalamic–pituitary–adrenal axis (HPA axis) hyperactivation and adrenal hyperplasia.[1] This in turn results in biochemical signs of hypercortisolism without Cushing's syndrome symptoms (e.g., high levels of cortisol) as well as high levels of adrenal androgens and mineralocorticoids.[1] Presentation may range from asymptomatic to manifestations of androgen excess, mineralocorticoid excess, and neuropsychiatric symptoms such as depression, anxiety, and chronic fatigue.[1] Management of glucocorticoid resistance is limited to symptomatic individuals and is treated with high doses of mineralocorticoid-sparing synthetic corticosteroids such as dexamethasone.[1]
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