Document Detail

Hyperparathyroidism-jaw tumor syndrome: a case report.
MedLine Citation:
PMID:  19942209     Owner:  NLM     Status:  MEDLINE    
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.
N Rekik; B Ben Naceur; M Mnif; F Mnif; H Mnif; T Boudawara; M Abid
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-11-25
Journal Detail:
Title:  Annales d'endocrinologie     Volume:  71     ISSN:  0003-4266     ISO Abbreviation:  Ann. Endocrinol. (Paris)     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-04-26     Completed Date:  2010-07-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0116744     Medline TA:  Ann Endocrinol (Paris)     Country:  France    
Other Details:
Languages:  eng     Pagination:  121-6     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.
Service d'endocrinologie et diabétologie, CHU Hédi Chaker, route de l'Ain, Sfax, Tunisia.
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MeSH Terms
Fatal Outcome
Frameshift Mutation
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
Tumor Suppressor Proteins / genetics*
Uterine Neoplasms / genetics
Young Adult
Reg. No./Substance:
0/CDC73 protein, human; 0/Tumor Suppressor Proteins

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