Hypoparathyroidism is the inadequate secretion of parathyroid hormone (PTH) by the parathyroid gland.
The clinical picture of primary hypoparathyroidism is dominated by the hypocalcaemia (osteoporosis, tetany).
Typical laboratory findings are hypocalcaemia and hyperphosphataemia due to the decreased parathyroid hormone level.
Primary and secondary forms can be distinguished. The former is characterized by hypocalcemia, the latter shows elevated calcium levels. Furthermore genetic and acquired forms can be distinguished.
Familial hypoparathyroidism can be caused by gain-of-function mutation in the calcium sensing receptor gene. Despite hypocalcaemia the chief cells of the parathyroid gland cannot secrete the hormone because the receptor continuously signals elevated plasma calcium levels.
The symptoms usually can be ameliorated by application of parathyroid hormone.
|Disorders of the parathyroid hormone system|
|Humoral hypercalcemia of malignancy|
|Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|
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OMIM.ORG articleOmim 146200 [^]
Orphanet articleOrphanet ID 1563 [^]
Wikipedia articleWikipedia EN (Hypoparathyroidism) [^]