The syndrome of pseudo-pseudohypoparathyroidism.

ALBRIGHT and associates,1in 1942, described a group of patients with hypocalcemia, hyperphosphatemia, ectopic calcification and ossification, dyschondroplasia manifested by short metacarpal and metatarsal bones, and a characteristic short, round body and round face. Tetany, convulsive symptoms, lenticular opacities, and calcification of the basal ganglia were also present. Unlike persons with idiopathic hypoparathyroidism, these patients had normal parathyroid glands and there was little or no phosphate diuresis in response to the administration of parathyroid extract. Having named this syndrome pseudohypoparathyroidism, Albright and associates * postulated the presence of multiple, independent genetic defects to account for the stigmata noted and suggested that the hypocalcemia and hyperphosphatemia resulted from a failure of end-organ response to endogenous parathyroid hormone. Subsequently, there appeared case reports3of persons with some but not all of the stigmata described by Albright and associates. The term pseudopseudohypoparathyroidism has been applied to the condition in which hypocalcemia (and

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