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Hypoparathyroidism
Clinical feature:
Definition: Hypoparathyroidism is the inadequate secretion of parathyroid hormone by the parathyroid gland.
Pathogenesis: 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.
Clinical picture: The clinical picture of hypoparathyroidism is dominated by the hypocalcaemia.
Diagnostics:
Diagnosis: Typical laboratory findings are hypocalcaemia and hyperphosphataemia due to the decreased parathyroid hormone level.
Differential: The symptoms usually can be ameliorated by application of parathyroid hormone. An inadequate response to parathyroid hormone, however, is termed pseudohypoparathyroidism.
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