Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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 carcinoma
Pseudohyperparathyreoidism
Pseudohypoparathyroidism

References:

1.

Arnold A et al. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.

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2.

Ding C et al. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

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3.

Baumber L et al. (2005) Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

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4.

Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

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5.

Sunthornthepvarakul T et al. (1999) A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.

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6.

Günther T et al. (2000) Genetic ablation of parathyroid glands reveals another source of parathyroid hormone.

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7.

Garfield N et al. (2001) Genetics and animal models of hypoparathyroidism.

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8.

Winer KK et al. (2003) Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium.

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9.

Parkinson DB et al. (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.

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10.

CHAPTAL J et al. () [Familial hypoparathyroidism. Clinical, biological and therapeutic study].

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11.

BENSON PF et al. (1964) HEREDITARY HYPOPARATHYROIDISM PRESENTING WITH OEDEMA IN THE NEONATAL PERIOD.

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12.

Datta R et al. (2007) Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.

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13.

McLeod DR et al. (1989) Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia.

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14.

Ahn TG et al. (1986) Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

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15.

Schmidtke J et al. (1986) Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism.

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16.

De Campo C et al. (1988) Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance.

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17.

Nusynowitz ML et al. (1973) Pseudoidiopathic hypoparathyroidism. Hypoparathyroidism with ineffective parathyroid hormone.

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18.

Barr DG et al. (1971) Chronic hypoparathyroidism in two generations.

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19.

None (1970) Familial early hypoparathyroidism associated with hypomagnesaemia.

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20.

Bronsky D et al. (1968) Familial idiopathic hypoparathyroidism.

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21.

Aceto T et al. (1966) Intrauterine hyperparathyroidism: a complication of untreated maternal hypoparathyroidism.

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22.

Taitz LS et al. (1966) Congenital absence of the parathyroid and thymus glands in an infant. (3 and 4 pharyngeal pouch syndrome).

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23.

Makita Y et al. (1995) Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

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24.

Scirè G et al. (1994) Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.

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25.

Parkinson DB et al. (1993) Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism.

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26.

OMIM.ORG article

Omim 146200 [^]
27.

Orphanet article

Orphanet ID 1563 [^]
28.

Wikipedia article

Wikipedia EN (Hypoparathyroidism) [^]
Update: April 29, 2019