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Primary hyperparathyroidism

MedGen UID:
66354
Concept ID:
C0221002
Disease or Syndrome
Synonyms: Primary hyperparathyroidism (disease); Primary hyperthyroidism
SNOMED CT: Primary hyperparathyroidism (36348003)
 
HPO: HP:0008200
Monarch Initiative: MONDO:0010837
OMIM®: 168450

Definition

A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. [from HPO]

Term Hierarchy

Conditions with this feature

Neonatal severe primary hyperparathyroidism
MedGen UID:
331326
Concept ID:
C1832615
Disease or Syndrome
Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).
Familial hypocalciuric hypercalcemia 3
MedGen UID:
322173
Concept ID:
C1833372
Disease or Syndrome
Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
Hyperparathyroidism, primary, caused by water clear cell hyperplasia
MedGen UID:
325036
Concept ID:
C1838501
Disease or Syndrome
Familial hypocalciuric hypercalcemia 2
MedGen UID:
374447
Concept ID:
C1840347
Disease or Syndrome
Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by Nesbit et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 (145980).
Hyperparathyroidism 1
MedGen UID:
333554
Concept ID:
C1840402
Disease or Syndrome
The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.
Multiple endocrine neoplasia type 4
MedGen UID:
373469
Concept ID:
C1970712
Neoplastic Process
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.\n\nThe major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.\n\nMany different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.\n\nThe most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.\n\nMultiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.
Hyperparathyroidism 4
MedGen UID:
1386327
Concept ID:
C4479229
Disease or Syndrome
Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.

Professional guidelines

PubMed

Bandeira F, de Moura Nóbrega J, de Oliveira LB, Bilezikian J
Arch Endocrinol Metab 2022 Nov 11;66(5):689-693. doi: 10.20945/2359-3997000000558. PMID: 36382758Free PMC Article
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Recent clinical studies

Etiology

Newey PJ
Endocrinol Metab Clin North Am 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. PMID: 34774240
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Diagnosis

Cusano NE, Cetani F
Arch Endocrinol Metab 2022 Nov 11;66(5):666-677. doi: 10.20945/2359-3997000000556. PMID: 36382756Free PMC Article
Kowalski GJ, Buła G, Żądło D, Gawrychowska A, Gawrychowski J
Endokrynol Pol 2020;71(3):260-270. doi: 10.5603/EP.a2020.0028. PMID: 32797471
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Therapy

Bandeira F, de Moura Nóbrega J, de Oliveira LB, Bilezikian J
Arch Endocrinol Metab 2022 Nov 11;66(5):689-693. doi: 10.20945/2359-3997000000558. PMID: 36382758Free PMC Article
Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Kim SJ, Shoback DM
Endocrinol Metab Clin North Am 2021 Dec;50(4):609-628. doi: 10.1016/j.ecl.2021.07.006. PMID: 34774237
Muñoz-Torres M, García-Martín A
Med Clin (Barc) 2018 Mar 23;150(6):226-232. Epub 2017 Oct 6 doi: 10.1016/j.medcli.2017.07.020. PMID: 28992983
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Prognosis

Herb J, Staley BS, Roberson M, Strassle PD, Kim LT
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Clinical prediction guides

Wang TS
Am J Surg 2024 Mar;229:196-197. Epub 2023 Nov 11 doi: 10.1016/j.amjsurg.2023.11.006. PMID: 37977977
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Recent systematic reviews

Nabata KJ, Wiseman JJ, Wiseman SM
Am J Surg 2023 Aug;226(2):186-196. Epub 2023 Apr 19 doi: 10.1016/j.amjsurg.2023.04.004. PMID: 37100740
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Endocr Relat Cancer 2023 Apr 1;30(4) Epub 2023 Mar 22 doi: 10.1530/ERC-22-0287. PMID: 36621911
Bilezikian JP, Khan AA, Silverberg SJ, Fuleihan GE, Marcocci C, Minisola S, Perrier N, Sitges-Serra A, Thakker RV, Guyatt G, Mannstadt M, Potts JT, Clarke BL, Brandi ML; International Workshop on Primary Hyperparathyroidism
J Bone Miner Res 2022 Nov;37(11):2293-2314. Epub 2022 Oct 17 doi: 10.1002/jbmr.4677. PMID: 36245251
Ejlsmark-Svensson H, Rolighed L, Harsløf T, Rejnmark L
Osteoporos Int 2021 Jun;32(6):1053-1060. Epub 2021 Feb 1 doi: 10.1007/s00198-021-05822-9. PMID: 33527175
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