Absent Aldosterone Response to ACTH in Familial Glucocorticoid Deficiency

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Abstract
The syndrome of familial glucocorticoid deficiency is characterized by cutaneous pigmentation, muscular weakness, hypoglycemia and convulsions. Hormonal evaluation of patients afflicted with this syndrome reveals elevated endogenous ACTH levels and low levels of plasma and urinary glucocorticoids that do not respond to stimulation with exogenous ACTH.1 2 3 4 Salt wasting is not a feature of this syndrome, and patients are able to conserve sodium normally in response to a low sodium diet. When measured, aldosterone secretion has been found to be normal.4 Pathological studies have demonstrated degeneration of adrenal zona fasiculata and reticularis, with preservation of the zona glomerulosa.4 The reason for . . .