[Familial glucocorticoid deficiency].

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, in 40% of patients caused by mutation in the ACTH receptor gene. In the remaining affected persons most probably mutation refers to regulatory region of ACTH receptor or other factors responsible for differentiation of the adrenal cortex. FGD is characterized by elevated ACTH and low serum morning cortisol level that does not respond...

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