José F Delgado, María Javiera Pérez E, Dasha Delgado, Carlos Lagos, René Baudrand, Thomas Uslar
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[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].
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.
期刊介绍:
La Revista Médica de Chile publica trabajos originales sobre temas de interés médico y de Ciencias Biomédicas, dando preferencia a los relacionados con la Medicina Interna y sus especialidades derivadas.
Publicada mensualmente, desde 1872, por la Sociedad Médica de Santiago.
La abreviatura de su título es Rev Med Chile, que debe ser usado en bibliografías, notas al pié de página, leyendas y referencias bibliográficas.