Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperparathyroidism

Abnormally elevated plasma levels of parathyroid hormone (PTH) define hyperparathyroidism. The cause is hyperfunction of one or more parathyroid glands or ectopic parathyroid hormone production.

Differentials

Hyperparathyroidism can be classified into primary, secondary, and tertiary forms. Only in primary hyperparathyroidism a mutated gene may be the cause. Secondary hyperparathyroidism results from prolonged hypocalcaemia or vitamin D deficiency as it occurs most often in chronic renal failure. In secondary hyperparathyroidism, there may exist a genetic disposition, however. The same perhaps holds true in tertiary hyperparathyroidism, in which after prolonged secondary hyperparathyroidism, an autonomous gland function develops.

Systematic

Disorders of the parathyroid hormone system
Humoral hypercalcemia of malignancy
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
Parathyroid carcinoma
Pseudohyperparathyreoidism
Pseudohypoparathyroidism

References:

1.

Carpten JD et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

[^]
2.

HILLMAN DA et al. (1964) NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM.

[^]
3.

Marx SJ et al. (1985) Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes.

[^]
4.

Goldbloom RB et al. (1972) Hereditary parathyroid hyperplasia: a surgical emergency of early infancy.

[^]
5.

Marx SJ et al. (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.

[^]
6.

None (1980) Familial hypocalciuric hypercalcemia.

[^]
7.

Pollak MR et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

[^]
8.

Pearce SH et al. (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

[^]
9.

Marx SJ et al. (1977) Family studies in patients with primary parathyroid hyperplasia.

[^]
10.

Farnebo F et al. (1999) Alternative genetic pathways in parathyroid tumorigenesis.

[^]
11.

Haven CJ et al. (2000) A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.

[^]
12.

Leborgne J et al. (1975) [Familial cancer of the parathyroid glands. Importance of angiography in the diagnosis of regional recurrences. Considerations on 2 cases].

[^]
13.

Hobbs MR et al. (2002) Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.

[^]
14.

Gasperi M et al. (2002) GH secretion is impaired in patients with primary hyperparathyroidism.

[^]
15.

Goldsmith RE et al. (1976) Familial hyperparathyroidism. Description of a large kindred with physiologic observations and a review of the literature.

[^]
16.

Chow CC et al. (2003) Oral alendronate increases bone mineral density in postmenopausal women with primary hyperparathyroidism.

[^]
17.

None (1958) Hereditary hyperparathyroidism associated with recurrent pancreatitis.

[^]
18.

CASSIDY CE et al. (1960) A familial occurrence of hyperparathyroidism caused by multiple parathyroid adenomas.

[^]
19.

CUTLER RE et al. (1964) FAMILIAL HYPERPARATHYROIDISM. A KINDRED INVOLVING ELEVEN CASES, WITH A DISCUSSION OF PRIMARY CHIEF-CELL HYPERPLASIA.

[^]
20.

Warner J et al. (2004) Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

[^]
21.

Streeten EA et al. (1992) Studies in a kindred with parathyroid carcinoma.

[^]
22.

Warner JV et al. (2006) Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14.

[^]
23.

None (1948) Primary diffuse parathyroid hyperplasia in an infant of 4 months.

[^]
24.

Jackson CE et al. (1990) Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.

[^]
25.

Arnold A et al. (1988) Monoclonality and abnormal parathyroid hormone genes in parathyroid adenomas.

[^]
26.

Mallette LE et al. (1987) Familial cystic parathyroid adenomatosis.

[^]
27.

Warnakulasuriya S et al. (1985) Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings.

[^]
28.

Dinnen JS et al. (1977) Parathyroid carcinoma in familial hyperparathyroidism.

[^]
29.

Grevsten S et al. (1974) Familial hyperparathyroidism.

[^]
30.

Mallette LE et al. (1974) Parathyroid carcinoma in familial hyperparathyroidism.

[^]
31.

Jackson CE et al. (1967) The relationship of hereditary hyperparathyroidism to endocrine adenomatosis.

[^]
32.

Kennett S et al. (1971) Jaw lesions in familial hyperparathyroidism.

[^]
33.

Mühlethaler JP et al. (1967) [Acute hyperparathyroidism in primary parathyroid hyperplasia].

[^]
34.

Graber AL et al. (1968) Familial hyperparathyroidism. Medical and surgical considerations.

[^]
35.

Corbeel L et al. (1968) [Congenital hyperparathyroidism].

[^]
36.

Peters N et al. (1966) Familial hyperparathyroidism.

[^]
37.

Thompson NW et al. (1978) Hereditary neonatal hyperparathyroidism.

[^]
38.

Lokich JJ et al. (1978) Carcinoid of the thymus with hereditary hyperparathyroidism.

[^]
39.

Law WM et al. (1983) Autosomal recessive inheritance of familial hyperparathyroidism.

[^]
40.

Rosen IB et al. (1981) Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence?

[^]
41.

Sandler LM et al. (1980) Familial hyperparathyroidism.

[^]
42.

Inoue H et al. (1995) Familial hyperparathyroidism associated with jaw fibroma: case report and literature review.

[^]
43.

Szabó J et al. (1995) Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.

[^]
44.

Wassif WS et al. (1993) Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer.

[^]
45.

Kakinuma A et al. (1994) Familial primary hyperparathyroidism complicated with Wilms' tumor.

[^]
46.

Kassem M et al. (1994) Familial isolated primary hyperparathyroidism.

[^]
47.

Spiegel AM et al. (1977) Neonatal primary hyperparathyroidism with autosomal dominant inheritance.

[^]
48.

Teh BT et al. (1996) Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

[^]
49.

Stefenelli T et al. (1997) Cardiac abnormalities in patients with primary hyperparathyroidism: implications for follow-up.

[^]
50.

Agarwal SK et al. (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

[^]
51.

Tanaka C et al. (1998) Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

[^]
52.

Yoshimoto K et al. (1998) Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features.

[^]
53.

Teh BT et al. (1998) Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families.

[^]
54.

Damiani D et al. () Primary hyperparathyroidism in children: patient report and review of the literature.

[^]
55.

None (1976) Familial hyperparathyroidism.

[^]
56.

Hobbs MR et al. (1999) Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.

[^]
57.

OMIM.ORG article

Omim 239200 [^]
58.

Wikipedia article

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