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Hyperparathyroidism-jaw tumor syndrome: a case report
N Rekik1, B Ben Naceur, M Mnif
1Service d'endocrinologie et diabétologie, CHU Hédi Chaker, route de l'Ain, Sfax, Tunisia. nabila.mejdoub@rns.tn
Annales D'Endocrinologie
|November 28, 2009
Summary
This case study details a young woman diagnosed with hyperparathyroidism-jaw tumor syndrome (HPT-JT), a rare genetic disorder. Genetic testing revealed a mutation in the HRPT2 gene, confirming the diagnosis and highlighting the importance of genetic screening for this hereditary condition.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant disorder.
- It is characterized by primary hyperparathyroidism (PHPT), jaw tumors, and a predisposition to other malignancies.
Observation:
- A 23-year-old woman presented with muscle weakness, hypercalcemia, hyperparathyroidism, and a mandibular lesion.
- Her mother had a history of PHPT and uterine fibroma.
- Histopathology revealed parathyroid hyperplasia.
Findings:
- The patient was diagnosed with HPT-JT syndrome based on clinical presentation and family history.
- Genetic analysis identified a germline mutation (85delG) in the HRPT2 gene, confirming the diagnosis.
- The mutation resulted in a frameshift, likely impacting gene function.
Implications:
- Early diagnosis of HPT-JT syndrome is crucial due to its hereditary nature.
- The syndrome carries a high risk of parathyroid malignancy, necessitating genetic counseling and screening.
- This case underscores the importance of comprehensive genetic evaluation in patients with unexplained PHPT and related features.
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