Familial Idiopathic Hypoparathyroidism

Abstract

A family is described in which 2 boys developed idiopathic hypoparathyroidism when 11 and 21 yr old. A sister, who died when 19 yr old, may also have had the disease. The remaining sibling, a brother age 30, and the parents are alive and well. Hypoparathyroidism in this family has apparently been transmitted by an autosomal recessive gene. This is the seventh family to be reported in which more than one member had idiopathic hypoparathyroidism and provides additional evidence that some cases of hypoparathyroidism are of genetic origin. In addition, the literature on familial idiopathic hypoparathyroidism and the classification of hypoparathyroidism are reviewed.