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Revista médica de Chile · Aug 2022
Case Reports[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].
- José F Delgado, María Javiera Pérez E, Dasha Delgado, Carlos Lagos, René Baudrand, and Thomas Uslar.
- Facultad de Medicina, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile.
- Rev Med Chil. 2022 Aug 1; 150 (8): 111511181115-1118.
AbstractUp 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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