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  • An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis, resulting in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.
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