Bilezikian JP., Thakker RV.
Recent advances in molecular biology and cytogenetics have made it possible to localize, clone, and characterize some of the genetic abnormalities that result in the hypoparathyroid disorders. Mutations in the parathyroid hormone gene and in the mitochondrial genome have been demonstrated to be associated with some forms of hypoparathyroidism, and mutations in the Gsα gene occur in some patients with pseudohypoparathyroidism; moreover, candidate genes for the DiGeorge syndrome have been identified. In addition, mutations in the calcium-sensing receptor gene have been reported in an autosomal dominant form of hypoparathyroidism. The gene for X-linked recessive hypoparathyroidism, a condition in which parathyroid gland development appears to be defective, has been located on Xq26-Xq27, and genes for a certain form of the DiGeorge syndrome have been located on chromosome 10p. These studies in molecular genetics have provided an opportunity to elucidate the pathogenesis of a widening spectrum of hypoparathyroid states. © 1997 Rapid Science Publishers.