Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Hypoparathyroidism

Hypoparathyroidism is the inadequate secretion of parathyroid hormone (PTH) by the parathyroid gland.

Clinical Findings

The clinical picture of primary hypoparathyroidism is dominated by the hypocalcaemia (osteoporosis, tetany).

Diagnosis

Typical laboratory findings are hypocalcaemia and hyperphosphataemia due to the decreased parathyroid hormone level.

Differentials

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.

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.

Management

The symptoms usually can be ameliorated by application of parathyroid hormone.

Systematic

Disorders of the parathyroid hormone system
Humoral hypercalcemia of malignancy
Hyperparathyroidism
Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH
Parathyroid adenoma
Parathyroid carcinoma
Pseudohyperparathyreoidism
Pseudohypoparathyroidism
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