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Parathyroid hyperplasia

MedGen UID:
75767
Concept ID:
C0271844
Disease or Syndrome
Synonyms: Enlarged parathyroid glands; Hyperplasia of Parathyroid; hyperplasia of parathyroid; Hyperplasia of the Parathyroid; hyperplasia of the parathyroid; Parathyroid Gland Hyperplasia; parathyroid gland hyperplasia; Parathyroid Hyperplasia; parathyroid hyperplasia; parathyroid hyperplasia (disease)
SNOMED CT: Parathyroid hyperplasia (9092004)
 
HPO: HP:0008208
Monarch Initiative: MONDO:0006354

Definition

Hyperplasia of the parathyroid gland. [from HPO]

Term Hierarchy

Conditions with this feature

Multiple endocrine neoplasia type 2B
MedGen UID:
9959
Concept ID:
C0025269
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.
Hypophosphatemic rickets and hyperparathyroidism
MedGen UID:
383131
Concept ID:
C2677524
Disease or Syndrome
Tumoral calcinosis, hyperphosphatemic, familial, 3
MedGen UID:
1638917
Concept ID:
C4693864
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' (HHS) is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.

Professional guidelines

PubMed

Song A, Yang Y, Jiang Y, Nie M, Jiang Y, Li M, Xia W, Xing X, Wang O
J Bone Miner Res 2023 Sep;38(9):1322-1333. Epub 2023 Jul 31 doi: 10.1002/jbmr.4883. PMID: 37449924
Franchi M, Gunnarsson J, Gonzales-Parra E, Ferreira A, Ström O, Corrao G
J Clin Endocrinol Metab 2023 Oct 18;108(11):e1424-e1432. doi: 10.1210/clinem/dgad289. PMID: 37235771Free PMC Article
Gosnell HL, Sadow PM
Surg Pathol Clin 2023 Mar;16(1):87-96. Epub 2022 Dec 9 doi: 10.1016/j.path.2022.10.001. PMID: 36739169

Recent clinical studies

Etiology

Tai YL, Shen HY, Nai WH, Fu JF, Wang IK, Huang CC, Weng CH, Lee CC, Huang WH, Yang HY, Hsu CW, Yen TH
Hemodial Int 2023 Apr;27(2):134-145. Epub 2023 Jan 31 doi: 10.1111/hdi.13067. PMID: 36719854
Chen Z, Cheng L, Zhang W, He W
Int J Hyperthermia 2022;39(1):466-474. doi: 10.1080/02656736.2022.2028907. PMID: 35271788
Cipriani NA, Glomski K, Sadow PM
Hum Pathol 2022 May;123:40-45. Epub 2022 Feb 20 doi: 10.1016/j.humpath.2022.02.012. PMID: 35196527Free PMC Article
Haissaguerre M, Vantyghem MC
Ann Endocrinol (Paris) 2022 Aug;83(4):219-225. Epub 2022 Jan 21 doi: 10.1016/j.ando.2022.01.001. PMID: 35074396
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Oct;68(10):771-87. Epub 2015 Jul 10 doi: 10.1136/jclinpath-2015-203186. PMID: 26163537

Diagnosis

Gokozan HN, Scognamiglio T
Adv Anat Pathol 2023 Jan 1;30(1):24-33. Epub 2022 Nov 1 doi: 10.1097/PAP.0000000000000379. PMID: 36315270
Marini F, Giusti F, Palmini G, Perigli G, Santoro R, Brandi ML
Front Endocrinol (Lausanne) 2022;13:834362. Epub 2022 Feb 24 doi: 10.3389/fendo.2022.834362. PMID: 35282432Free PMC Article
Erickson LA, Mete O, Juhlin CC, Perren A, Gill AJ
Endocr Pathol 2022 Mar;33(1):64-89. Epub 2022 Feb 17 doi: 10.1007/s12022-022-09709-1. PMID: 35175514
Segiet OA, Michalski M, Brzozowa-Zasada M, Piecuch A, Żaba M, Helewski K, Gabriel A, Wojnicz R
Ann Diagn Pathol 2015 Apr;19(2):91-8. Epub 2015 Jan 15 doi: 10.1016/j.anndiagpath.2015.01.002. PMID: 25648902
Davey DD, Glant MD, Berger EK
Diagn Cytopathol 1986 Jan-Mar;2(1):76-80. doi: 10.1002/dc.2840020116. PMID: 2424691

Therapy

Sun L, Wang Z, Zheng M, Hang Z, Liu J, Gao X, Gui Z, Feng D, Zhang D, Han Q, Fei S, Chen H, Tao J, Han Z, Ju X, Gu M, Tan R
Ren Fail 2023 Dec;45(1):2210231. doi: 10.1080/0886022X.2023.2210231. PMID: 37183797Free PMC Article
Tai YL, Shen HY, Nai WH, Fu JF, Wang IK, Huang CC, Weng CH, Lee CC, Huang WH, Yang HY, Hsu CW, Yen TH
Hemodial Int 2023 Apr;27(2):134-145. Epub 2023 Jan 31 doi: 10.1111/hdi.13067. PMID: 36719854
Haissaguerre M, Vantyghem MC
Ann Endocrinol (Paris) 2022 Aug;83(4):219-225. Epub 2022 Jan 21 doi: 10.1016/j.ando.2022.01.001. PMID: 35074396
Vulpio C, Bossola M
Ther Apher Dial 2018 Feb;22(1):11-21. Epub 2017 Oct 5 doi: 10.1111/1744-9987.12604. PMID: 28980761
Dusso AS, Thadhani R, Slatopolsky E
Semin Nephrol 2004 Jan;24(1):10-6. doi: 10.1053/j.semnephrol.2003.08.018. PMID: 14730505

Prognosis

Tai YL, Shen HY, Nai WH, Fu JF, Wang IK, Huang CC, Weng CH, Lee CC, Huang WH, Yang HY, Hsu CW, Yen TH
Hemodial Int 2023 Apr;27(2):134-145. Epub 2023 Jan 31 doi: 10.1111/hdi.13067. PMID: 36719854
Gokozan HN, Scognamiglio T
Adv Anat Pathol 2023 Jan 1;30(1):24-33. Epub 2022 Nov 1 doi: 10.1097/PAP.0000000000000379. PMID: 36315270
Marini F, Giusti F, Palmini G, Perigli G, Santoro R, Brandi ML
Front Endocrinol (Lausanne) 2022;13:834362. Epub 2022 Feb 24 doi: 10.3389/fendo.2022.834362. PMID: 35282432Free PMC Article
Vulpio C, Bossola M
Ther Apher Dial 2018 Feb;22(1):11-21. Epub 2017 Oct 5 doi: 10.1111/1744-9987.12604. PMID: 28980761
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Oct;68(10):771-87. Epub 2015 Jul 10 doi: 10.1136/jclinpath-2015-203186. PMID: 26163537

Clinical prediction guides

Song A, Yang Y, Jiang Y, Nie M, Jiang Y, Li M, Xia W, Xing X, Wang O
J Bone Miner Res 2023 Sep;38(9):1322-1333. Epub 2023 Jul 31 doi: 10.1002/jbmr.4883. PMID: 37449924
Tai YL, Shen HY, Nai WH, Fu JF, Wang IK, Huang CC, Weng CH, Lee CC, Huang WH, Yang HY, Hsu CW, Yen TH
Hemodial Int 2023 Apr;27(2):134-145. Epub 2023 Jan 31 doi: 10.1111/hdi.13067. PMID: 36719854
Vulpio C, Bossola M
Ther Apher Dial 2018 Feb;22(1):11-21. Epub 2017 Oct 5 doi: 10.1111/1744-9987.12604. PMID: 28980761
Duan K, Gomez Hernandez K, Mete O
J Clin Pathol 2015 Oct;68(10):771-87. Epub 2015 Jul 10 doi: 10.1136/jclinpath-2015-203186. PMID: 26163537
Davey DD, Glant MD, Berger EK
Diagn Cytopathol 1986 Jan-Mar;2(1):76-80. doi: 10.1002/dc.2840020116. PMID: 2424691

Recent systematic reviews

Gao Y, Li R, Wu L, Yang H, Mao J, Zhao W
Endocrine 2023 Nov;82(2):442-449. Epub 2023 Sep 5 doi: 10.1007/s12020-023-03440-5. PMID: 37668926
Franchi M, Gunnarsson J, Gonzales-Parra E, Ferreira A, Ström O, Corrao G
J Clin Endocrinol Metab 2023 Oct 18;108(11):e1424-e1432. doi: 10.1210/clinem/dgad289. PMID: 37235771Free PMC Article

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