The Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Cases

Abstract

Extract: Six patients with the syndrome of congenital adrenocortical unresponsiveness to ACTH are reported.

This syndrome is characterized by feeding problems early in life, hypoglycemic episodes and hyper-pigmentation of the skin (table I). Blood pressure and levels of electrolytes in serum were normal (table II). PPD and histoplasmin skin tests were negative, while antibodies to adrenal, thyroid, and gastric tissues were undetectable. Urinary excretion of 17-hydroxycorticosteroids and cortisol production rates were low and did not respond to administration of ACTH (table III). While receiving a low sodium diet, the patients were able to conserve sodium (figs. 2, 3 and 4) and to increase the rate of aldosterone secretion (tables IV and V).

In one case, adrenal pathology showed a normal zona glomerulosa with atrophy of the zonae fasciculata and reticularis.

This isolated deficiency in cortisol secretion is not due to a defect in pituitary function or a deficiency of one of the enzymes directly involved in steroid biosynthesis. The most probable pathogenesis is an abnormality at the site (or one of the sites) of ACTH action on cortisol biosynthesis.

Speculation: It is probable that some young infants in whom a diagnosis of Addison's disease is made do, in fact, have the syndrome of congenital adrenocortical unresponsiveness to ACTH. Studies of cortisol secretion rates prior to and during ACTH administration and a determination of aldosterone secretion rates while receiving normal and low salt diets will permit differentiation of the two disorders.

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