FAMILIAL GLYCOCORTICOID DEFICIENCY

Migeon et al (1968) described an entity of adrenal unresponsiveness to ACTH characterized by hypoglycemia, hyperpigmentation normal tolerance to salt deprivation and no elevation of plasma Cortisol with ACTH. The possibility of X-linked and autosomal forms suggests heterogeneity in this rare condition. Two affected brothers, offspring of first-cousin parents are presented. The first case died at the age of three years of “unknown cause” with a history of intermittent hypoglycemia precipitated by the stress of infections. Post-mortem examination revealed marked hyperpigmentation, cerebral edema, small foci of calcifications scattered in the arteriolar wall. The adrenals were hypoplastic showing degeneration of the zona fasciculata and reticularis, with preservation of the zona glomerulosa. The second son started with similar signs and symptoms at the age of two years and also showed hyperpigmentation when he was admitted to the Pediatric Service of the University of Brasilia, six months later. Laboratory investigation revealed 28mg% glucose, 136mEq/l sodium, 4,1mEq/l potassium, calcium, phosphorus, uric acid, alkaline phosphatase, colesterol, triglycerides were within normal range. Endocrine testing showed normal HGH, PRL, T3, T4, TSH responses. The Cortisol levels were undetectable even after six hours IV ACTH administration. The patient was put in a regular diet with prednisone 2,5mg twice daily and is quite well on this regimen.