The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature.
Journal
Case reports in endocrinology
ISSN: 2090-6501
Titre abrégé: Case Rep Endocrinol
Pays: United States
ID NLM: 101576457
Informations de publication
Date de publication:
2021
2021
Historique:
received:
01
02
2021
revised:
20
04
2021
accepted:
30
04
2021
entrez:
9
6
2021
pubmed:
10
6
2021
medline:
10
6
2021
Statut:
epublish
Résumé
Hypercalcaemia and its systemic sequelae are a relatively common finding amongst patients in the field of endocrinology. Primary hyperparathyroidism, a frequent cause of hypercalcaemia, is often seen among middle-aged female patients, typically resulting from an underlying single-gland adenoma. Although patients may present with symptoms (nephrolithiasis, musculoskeletal discomfort, dehydration, or mood disturbance, to name a few), hypercalcaemia is rather frequently identified incidentally. In younger patients, a familial form of primary hyperparathyroidism must be considered, with a positive diagnosis mandating familial screening. Hyperparathyroidism-jaw tumour syndrome is one such autosomal dominant familial disorder, characterised by a mutation in the cell division cycle 73 (CDC73; also known as HRPT-2) tumour suppressor gene. This disorder is characterised by multiple pleiotropic phenomena, including recurrent primary hyperparathyroidism (and the effects of hypercalcaemia), neoplasms (such as uterine, renal, mandibular, and maxillary), and infertility. A patient not conforming to the classic candidacy for primary hyperparathyroidism requires consideration for a familial cause.
Identifiants
pubmed: 34104498
doi: 10.1155/2021/5551203
pmc: PMC8159647
doi:
Types de publication
Case Reports
Langues
eng
Pagination
5551203Informations de copyright
Copyright © 2021 Maxim Barnett et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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