Portal de investigação
ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report
Data de publicação:
Autores da FMUP
Participantes de fora da FMUP
- Ferreira, MJ
- Pedro, J
- Salazar, D
- Costa, C
- Rodrigues, JA
- Costa, MM
- Grangeia, A
- Castedo, JL
Unidades de investigação
Abstract
Primary bilateral adrenal macronodular hyperplasia is characterized by functioning adrenal macronodules and variable cortisol secretion. Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, inarmadillo repeat containing 5 (ARMC5)gene. The identification of the pathogenic variant enables the physician to identify and treat these patients earlier and more effectively. It has also been noticed that patients with germline causative variants show a different clinical spectrum, presenting specific clinical characteristics, as the association with the presence of meningiomas.
Dados da publicação
- ISSN/ISSNe:
- 2090-6501, 2090-651X
- Tipo:
- Article
- Páginas:
- 1-
- DOI:
- 10.1155/2020/8848151
- Link para outro recurso:
- www.scopus.com
Case Reports in Endocrinology Hindawi Publishing Corporation
Citações Recebidas na Web of Science: 8
Citações Recebidas na Scopus: 13
Documentos
- Não há documentos
Filiações
Keywords
- MUTATIONS; GENETICS; RECEPTOR
Proyectos asociados
Diabetic Neuropathy, Central Nervous System Plasticity and Metabolic Disfunction
Investigador Principal: Davide Maurício Costa Carvalho
Estudo Clínico Académico . 2020
Citar a publicação
Ferreira MJ,Pedro J,Salazar D,Costa C,Rodrigues JA,Costa MM,Grangeia A,Castedo JL,Carvalho D. ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report. Case Rep. Endocrinol. 2020. 2020. p. 1-1.
