| Hyperparathyroidism-jaw tumor syndrome: a case report. | |
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MedLine Citation:
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PMID: 19942209 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirmed by an elevated parathyroid hormone level above 1450 pg/ml with hypercalcemia and hypercalciuria. X-ray radiographies showed a radiolucent lesion in the right body of the mandible. Bilateral neck exploration was performed. An inferior right parathyroidectomy, a left thyroid lobectomy with isthmectomy and thymectomy were carried out. Histopathological examination of the specimen showed a diffuse hyperplasia of the parathyroid principal cells. The association of PHPT with a right jaw tumor and uterine fibroma suggested the diagnosis of HPT-JT syndrome. Mutation screening of HRPT2 gene was carried out and identified a germline mutation, consisting in a base deletion in exon 1, 85delG, inducing a frameshift. The diagnosis of HPT-JT syndrome is clinically important because of its hereditary component and its high risk of parathyroid malignancy, making a genetic inquiry necessary. |
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Authors:
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N Rekik; B Ben Naceur; M Mnif; F Mnif; H Mnif; T Boudawara; M Abid |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-11-25 |
Journal Detail:
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Title: Annales d'endocrinologie Volume: 71 ISSN: 0003-4266 ISO Abbreviation: Ann. Endocrinol. (Paris) Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-04-26 Completed Date: 2010-07-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0116744 Medline TA: Ann Endocrinol (Paris) Country: France |
Other Details:
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Languages: eng Pagination: 121-6 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2009 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Service d'endocrinologie et diabétologie, CHU Hédi Chaker, route de l'Ain, Sfax, Tunisia. nabila.mejdoub@rns.tn |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Exons Fatal Outcome Female Frameshift Mutation Humans Hyperparathyroidism, Primary / diagnosis*, genetics, pathology Leiomyoma / genetics Maxillary Neoplasms / diagnosis*, genetics, pathology Neoplastic Syndromes, Hereditary / diagnosis*, genetics, pathology Parathyroid Neoplasms / diagnosis*, genetics, pathology Sequence Deletion Syndrome Tumor Suppressor Proteins / genetics* Uterine Neoplasms / genetics Young Adult |
| Chemical | |
Reg. No./Substance:
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0/CDC73 protein, human; 0/Tumor Suppressor Proteins |
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