Pseudohypoparathyroidism Type II: A Possible Defect in the Reception of the Cyclic AMP Signal

Abstract

A22 month old boy with grand-mal seizures and hypocalcemia, had an elevated serum concentration of parathyroid hormone, increased urinary excretion of cyclic AMP, and a marked rise in urinary cyclic AMP in response to exogenously administered parathyroid extract. However, neither the renal tubular handling of phosphate nor the serum calcium concentration responded appropriately to administered parathyroid hormone. This defect appears to represent a failure of intracellular reception of the cyclic AMP message, and the disorder might be called pseudohypoparathyroidism Type II. (N Engl J Med 289:1056–1060, 1973)