Browsing by Author "Delgado, Dasha"

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    Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno
    (2022) Delgado García, José Fröbel; Perez E., María Javiera; Delgado, Dasha; Lagos, Carlos; Baudrand Biggs, René; Uslar N., Thomas
    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.