Reporte de caso de feocromocitoma bilateral asociado a mutaci�n del gen TMEM127. Primer caso chileno
Abstract
Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.
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| Título según SCOPUS: | Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case |
| Título según SCIELO: | Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno |
| Título de la Revista: | Revista Medica de Chile |
| Volumen: | 150 |
| Número: | 8 |
| Editorial: | Sociedad Médica de Santiago |
| Fecha de publicación: | 2022 |
| Página final: | 1118 |
| Idioma: | Spanish |
| DOI: |
10.4067/S0034-98872022000801115 |
| Notas: | SCIELO, SCOPUS |