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

Authors :
Delgado JF
Pérez E MJ
Delgado D
Lagos C
Baudrand R
Uslar T
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