Familial Isolated Hypoparathyroidism
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NORD is very grateful to Karen K. Winer, MD, National Institutes of Health, National Institute of Child Health and Human Development, NIH, /Pediatric Growth and Nutrition Branch, for assistance in the preparation of this report.
Synonyms of Familial Isolated Hypoparathyroidism
- CASR-related hypoparathyroidism
- GCM2-related hypoparathyroidism
- PTH-related hypoparathyroidism
- X-linked recessive hypoparathyroidism
Familial isolated hypoparathyroidism is a group of extremely rare genetic disorders characterized by parathyroid glands that do not produce or secrete enough parathyroid hormone to maintain normal mineral balance. The parathyroid glands are part of the endocrine system, the network of glands that regulate the chemical processes within the body. Parathyroid hormone plays a vital role in regulating the levels of calcium and phosphorus in the blood. Parathyroid hormone deficiency causes low levels of calcium in the blood (hypocalcemia) and high levels of phosphorous.
The most common cause of hypoparathyroidism is damage to or removal of the parathyroid glands due to neck surgery. Hypoparathyroidism can also be caused by autoimmunity and can occur in association with a number of different underlying disorders such as autoimmune polyglandular syndrome type 1 (APS-1). Familial isolated hypoparathyroidism is caused by mutations to one of several different genes.
Familial Isolated Hypoparathyroidism Resources
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.
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