Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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OMIM.ORG article Omim 146200
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Orphanet article Orphanet ID 1563
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Wikipedia article Wikipedia EN (Hypoparathyroidism)
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