Pseudohypoparathyroidism without clinical stigmata

Abstract

Five cases of pseudohypoparathyroidism without the usually associated clinical stigmata of short stature, mental retardation, brachydactylia and moon facies have recently been identified in Syracuse. Four of the cases are in the same family. The familial proband was a 12 year old, previously asymptomatic girl who, following a grand mal seizure, was found to have hypocalcemia, hyperphosphatemia, an elevated alkaline phosphatase and radiologic hyperparathyroidism. She was refractory to parathyroid extract but did respond to large doses of calciferol. Her father, brother, and two of her three sisters were clinically and biochemically normal. However, her 46 years old mother and 20 year old sister had biochemical pseudohypoparathyroidism. Investigation of this family has also revealed a maternal uncle with pseudohypoparathyroidism and a 79 year old healthy maternal grandfather with biochemical evidence of hyperparathyroidism. The fifth case is that of a tall, thin, highly intelligent black male who has been followed for 12 years with a history of grand mal seizures controlled with anticonvulsant medications (Dilantin, Phenobarbital and Mysoline). After a wrist injury, x-rays revealed unsuspected bone resorption. subsequent studies disclosed hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase, and generalized osteitis fibrosa cystica. He was refractory to parathyroid extract but did respond to large doses of calciferol with complete healing of the bone lesions. These five cases are presented to re-emphasize the fact that pseudohypoparathyroidism need not be associated with clinical stigmata.