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[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].
- Source :
-
Revista medica de Chile [Rev Med Chil] 2022 Aug; Vol. 150 (8), pp. 1115-1118. - Publication Year :
- 2022
-
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.
Details
- Language :
- Spanish; Castilian
- ISSN :
- 0717-6163
- Volume :
- 150
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Revista medica de Chile
- Publication Type :
- Academic Journal
- Accession number :
- 37358160
- Full Text :
- https://doi.org/10.4067/S0034-98872022000801115