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Parathyroid gland adenoma

MedGen UID:
75502
Concept ID:
C0262587
Neoplastic Process
Synonym: Parathyroid adenoma
SNOMED CT: Parathyroid adenoma (128474007)
 
HPO: HP:0002897
Monarch Initiative: MONDO:0006890
OMIM®: 607393

Definition

A benign tumor of the parathyroid gland that can cause hyperparathyroidism. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParathyroid gland adenoma

Conditions with this feature

Multiple endocrine neoplasia, type 1
MedGen UID:
9957
Concept ID:
C0025267
Neoplastic Process
Multiple endocrine neoplasia type 1 (MEN1) includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident either by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the most common MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common), which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas.
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Familial hypocalciuric hypercalcemia 1
MedGen UID:
137973
Concept ID:
C0342637
Disease or Syndrome
Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; 168450) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010). Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004). Genetic Heterogeneity of Hypocalciuric Hypercalcemia Familial hypocalciuric hypercalcemia type II (HHC2; 145981) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13, and HHC3 (600740) is caused by mutation in the AP2S1 gene (602242) on chromosome 19q13.
Hyperparathyroidism 2 with jaw tumors
MedGen UID:
310065
Concept ID:
C1704981
Neoplastic Process
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\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.\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.

Professional guidelines

PubMed

El-Hajj Fuleihan G, Clines GA, Hu MI, Marcocci C, Murad MH, Piggott T, Van Poznak C, Wu JY, Drake MT
J Clin Endocrinol Metab 2023 Feb 15;108(3):507-528. doi: 10.1210/clinem/dgac621. PMID: 36545746
Bible KC, Kebebew E, Brierley J, Brito JP, Cabanillas ME, Clark TJ Jr, Di Cristofano A, Foote R, Giordano T, Kasperbauer J, Newbold K, Nikiforov YE, Randolph G, Rosenthal MS, Sawka AM, Shah M, Shaha A, Smallridge R, Wong-Clark CK
Thyroid 2021 Mar;31(3):337-386. doi: 10.1089/thy.2020.0944. PMID: 33728999Free PMC Article
Minisola S, Pepe J, Piemonte S, Cipriani C
BMJ 2015 Jun 2;350:h2723. doi: 10.1136/bmj.h2723. PMID: 26037642

Recent clinical studies

Etiology

Platz Batista da Silva N, Jung EM, Jung F, Schlitt HJ, Hornung M
Clin Hemorheol Microcirc 2018;70(4):423-431. doi: 10.3233/CH-189307. PMID: 30347604
Agha A, Hornung M, Stroszczynski C, Schlitt HJ, Jung EM
J Clin Endocrinol Metab 2013 May;98(5):2019-25. Epub 2013 Mar 20 doi: 10.1210/jc.2013-1007. PMID: 23515449
Svec A, Bury Y
Pathol Oncol Res 2010 Sep;16(3):443-6. Epub 2010 Jan 10 doi: 10.1007/s12253-009-9236-z. PMID: 20063187
Veselý D, Astl J, Matucha P, Sterzl I, Betka J
Neuro Endocrinol Lett 2003 Dec;24(6):417-9. PMID: 15073567

Diagnosis

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Ann Diagn Pathol 2022 Jun;58:151907. Epub 2022 Jan 31 doi: 10.1016/j.anndiagpath.2022.151907. PMID: 35299079
Walulik A, Misiąg W, Gajdzis P, Szymańska-Chabowska A, Chabowski M
Adv Exp Med Biol 2022;1374:73-79. doi: 10.1007/5584_2021_698. PMID: 34970729
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Mariolis-Sapsakos T, Anastasiou N, Tasis N, Tsouknidas I, Gavala A, Katsipoulakis A, Filippou DK
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Knezević-Obad A, Tomić-Brzac H, Zarković K, Dodig D, Stromar IK
Coll Antropol 2010 Mar;34(1):25-9. PMID: 20432729

Therapy

Platz Batista da Silva N, Jung EM, Jung F, Schlitt HJ, Hornung M
Clin Hemorheol Microcirc 2018;70(4):423-431. doi: 10.3233/CH-189307. PMID: 30347604

Prognosis

Sagiv R, Delgado B, Lavon O, Osipov V, Sade R, Shashar S, Yegodayev KM, Elkabets M, Joshua BZ
Ann Diagn Pathol 2022 Jun;58:151907. Epub 2022 Jan 31 doi: 10.1016/j.anndiagpath.2022.151907. PMID: 35299079
Agha A, Hornung M, Stroszczynski C, Schlitt HJ, Jung EM
J Clin Endocrinol Metab 2013 May;98(5):2019-25. Epub 2013 Mar 20 doi: 10.1210/jc.2013-1007. PMID: 23515449

Clinical prediction guides

Sagiv R, Delgado B, Lavon O, Osipov V, Sade R, Shashar S, Yegodayev KM, Elkabets M, Joshua BZ
Ann Diagn Pathol 2022 Jun;58:151907. Epub 2022 Jan 31 doi: 10.1016/j.anndiagpath.2022.151907. PMID: 35299079
Svec A, Bury Y
Pathol Oncol Res 2010 Sep;16(3):443-6. Epub 2010 Jan 10 doi: 10.1007/s12253-009-9236-z. PMID: 20063187
Ergün S, Saraçoglu A, Güneri P, Ozpinar B
Dentomaxillofac Radiol 2009 Jul;38(5):281-8. doi: 10.1259/dmfr/24986192. PMID: 19474255
Kucera T, Veselý D, Pácová H, Martínek J, Astl J
Neuro Endocrinol Lett 2005 Aug;26(4):373-6. PMID: 16136006
Yoshihara T, Morita M, Masuda T, Kanda T, Takemiya S
Auris Nasus Larynx 1991;18(2):189-97. doi: 10.1016/s0385-8146(12)80224-0. PMID: 1741713

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