| Journal: | Revista médica de Chile |
| Database: | PERIÓDICA |
| System number: | 000457885 |
| ISSN: | 0034-9887 |
| Authors: | Delgado, José F1 Pérez E., María Javiera1 Delgado, Dasha Lagos, Carlos3 Baudrand, René2 Uslar, Thomas2 |
| Institutions: | 1Complejo Asistencial Dr. Sótero del Río, Equipo de Endocrinología, Santiago de Chile. Chile 2Pontificia Universidad Católica de Chile, Facultad de Medicina, Santiago de Chile. Chile 3Universidad San Sebastián, Facultad de Medicina y Ciencia, Concepción. Chile |
| Year: | 2022 |
| Season: | Ago |
| Volumen: | 150 |
| Number: | 8 |
| Pages: | 1115-1118 |
| Country: | Chile |
| Language: | Español |
| Document type: | Artículo |
| Approach: | Caso clínico, descriptivo |
| English 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 |
| Disciplines: | Medicina |
| Keyword: | Endocrinología, Genética, Incidentaloma adrenal, Mutación genética, Feocromocitoma |
| Keyword: | Endocrinology, Genetics, Adrenal incidentaloma, Genetic mutation, Pheochromocytoma |
| Full text: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
