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Published in: World Journal of Surgical Oncology 1/2015

Open Access 01-12-2015 | Case report

A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report

Authors: Yuji Shinzato, Yasukazu Ikehara

Published in: World Journal of Surgical Oncology | Issue 1/2015

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Abstract

The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene. TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.
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Metadata
Title
A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report
Authors
Yuji Shinzato
Yasukazu Ikehara
Publication date
01-12-2015
Publisher
BioMed Central
Published in
World Journal of Surgical Oncology / Issue 1/2015
Electronic ISSN: 1477-7819
DOI
https://doi.org/10.1186/s12957-015-0520-y

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