Pseudohipoparatiroidismo / Pseudohypoparathyroidism

A 5 year old boy with normal phenotype and normal renal function presented tetany. Hypocalcemia and hyperphosphatemia, with increased serum levels of parathyroid hormone (PTH) were detected in serial measurements. Pseudohypoparathyroidism was diagnosed. This disease presents the biochemical abnormalities of hypoparathyroidism (hypocalcemia, hyperphosphatemia) with peripheral resistance to PTH activity. The patient was treated effectively with calcium and vitamin D supplements. The causes of hypocalcemia related to parathyroid gland activity are reviewed and the physiopathology of pseudohypoparathyroidism is described.