[Type I pseudohypoparathyroidism. Study and prolonged follow-up of a case]

Abstract

The prolonged evolution of a case of pseudohypoparathyroidism with hereditary osteodystrophy (AHO) and osteitis fibrosa is presented. The diagnosis was confirmed by the existence of a peculiar phenotype, hypocalcaemia, hyperphosphatemia, increased PTH values, and a lack of tubular response after PTH and radiological signs of hyperparathyroidism. The clinical and biochemical evolution, under 1.25 (OH)2D3 therapy with special emphasis on the growth and development were shown. The bibliography was also reviewed.