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Summarvinfusion. An abnormality of receptor-transmitter function involv-A 3%-year-old male is described with the rare triad of ACTH insensitivity, achalasia, and alacrima. Adrenal insufficiency presented with hypoglycemia and hyperpigmentation at age 2% years. Achalasia was diagnosed at age 3% years and alacrima, retrospectively, had been present since birth.Evaluation of adrenal function revealed complete resistance of the glucocorticoid-producing zonas fasciculata and reticularis to both endogenous and exogenous ACTH. No chemical evidence was found for the presence of either an abnormal ACTH molecule or a circulating antibody to ACTH. Additionally, adrenal mineralocorticoid function was clearly responsive to both exogenous ACTH and to perturbations of the renin-angiotensin system. Only glucocorticoid deficiency due to selective ACTH resistance was documented.Shortly after diagnosis, glucocorticoid production could be stimulated by intravenous theophylline administration. Presumably, this agent, whose intracellular actions may be mediated by either enhancement of cyclic AMP action or alterations in calcium transport, circumvented the usual interaction of ACTH with its receptor and thereby stimulated steroidogenesis. The responsiveness to theophylline was lost 1 year later, perhaps as a result of final atrophy of the zonas fasciculata and reticularis secondary to lack of effective ACTH stimulation; thus, our patient appears to have a unique syndrome characterized by ACTH insensitivity and a multifocal defect of the autonomic, specifically parasympathetic, nervous system, resulting in achalasia and alacrima. A putative pathogenic defect linking hormone-receptor cyclic AMP-mediated processes with abnormalities in parasympathetic neuronal innervation or receptor-mediated transmitter function, as may occur in achalasia and alacrima, remains to be demonstrated.

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