Reproductive endocrinology: PDF OnlyHypoparathyroidismBilezikian, John P. MD; Thakker, R. V. MD FRCP Author Information Division of Endocrinology, Department of Medicine, College of Physicians and Surgeons. Columbia University. 630 West 168th Street, New York, NY 10032. USA. MRC Molecular Endocrinology Grouo, Imperial College School of Medicine. DuCane Road. London, W12 ONN, UK Current Opinion in Endocrinology and Diabetes: December 1997 - Volume 4 - Issue 6 - p 427-432 Buy Abstract 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 hypeparathyroidism, and mutations in the Gsα gene occur in some patients with pseudo- hypoparathyroidism; 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. © Lippincott-Raven Publishers.