[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].

Autor:	Delgado JF; Facultad de Medicina, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile., Pérez E MJ; Facultad de Medicina, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile., Delgado D; Lassiter High School, Chile., Lagos C; Escuela de Química y Farmacia, Facultad de Medicina y Ciencia, Universidad San Sebastián, Chile., Baudrand R; Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Uslar T; Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Jazyk:	Spanish; Castilian
Zdroj:	Revista medica de Chile [Rev Med Chil] 2022 Aug; Vol. 150 (8), pp. 1115-1118.
DOI:	10.4067/S0034-98872022000801115
Abstrakt:	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.
Databáze:	MEDLINE
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