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

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 par...

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Detalles Bibliográficos
Autores principales: Shinzato, Yuji, Ikehara, Yasukazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359518/
https://www.ncbi.nlm.nih.gov/pubmed/25889454
http://dx.doi.org/10.1186/s12957-015-0520-y
Descripción
Sumario: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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