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© 2018 Elsevier Inc. All rights reserved. Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia due to a lack of parathyroid hormone (PTH) secretion or action. Hypoparathyroidism may occur as part of a pluriglandular autoimmune disorder or as a complex congenital defect, as for example in the autosomal dominant DiGeorge or hypoparathyroidism, deafness, and renal dysplasia (HDR) syndromes. In addition, hypoparathyroidism may occur as a solitary endocrinopathy and this has been called isolated or idiopathic hypoparathyroidism. Familial occurrences of isolated hypoparathyroidism with autosomal dominant, autosomal recessive, and X-linked inheritances have been established. Studies of patients with these forms of hypoparathyroidism and mouse models with parathyroid defects have elucidated important roles for: transcription factors (e.g., TBX1, GATA3, GCMB, AIRE1, and SOX3), the tubulin-specific chaperone (TBCE), and the mitochondrial genome in determining parathyroid development; the calcium-sensing receptor (CaSR) and G-protein subunit α11 in regulating extracellular calcium and PTH secretion; and PTH gene expression for synthesis and secretion of PTH. Moreover, recombinant PTH and drugs targeting the CaSR have been shown to be of benefit for the management of hypoparathyroidism.

Original publication





Book title

Genetics of Bone Biology and Skeletal Disease: Second Edition

Publication Date



617 - 636