FAMILIAL HYPOPARATHYROIDISM

Abstract
Idiopathic hypoparathyroidism is a relatively rare disease, characterized by recurrent tetany, low serum calcium level, high serum phosphorus level, and low urinary excretion of calcium. Other manifestations of the malady include epileptiform seizures, cataracts, dental defects, calcification of the basal ganglions or of the choroid plexus, and increased bone density. Hypoparathyroidism must be differentiated from pseudohypoparathyroidism, an even rarer disease, in which there is no parathyroid deficiency but a failure of the target organ response to parathyroid hormone. In addition to the symptoms and signs of hypoparathyroidism, patients with pseudohypoparathyroidism have a characteristic short, stocky stature, rounded face, shortened metacarpal bones, and subcutaneous calcifications. Both these disease entities appear most commonly during the first two decades of life, although the onset of idiopathic hypoparathyroidism may be delayed until after the age of 35 years. A recent article by Jordan and Kelsall1 includes a report of a case and an