ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report
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,...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2020/8848151 |
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| author | M. J. Ferreira J. Pedro D. Salazar C. Costa J. Aragão Rodrigues M. M. Costa A. Grangeia J. L. Castedo D. Carvalho |
| author_facet | M. J. Ferreira J. Pedro D. Salazar C. Costa J. Aragão Rodrigues M. M. Costa A. Grangeia J. L. Castedo D. Carvalho |
| author_sort | M. J. Ferreira |
| collection | DOAJ |
| description | 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, in armadillo 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. |
| format | Article |
| id | doaj-art-38472910cc5440a083f39693035cd957 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-38472910cc5440a083f39693035cd9572025-02-03T05:53:53ZengWileyCase Reports in Endocrinology2090-65012090-651X2020-01-01202010.1155/2020/88481518848151ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family ReportM. J. Ferreira0J. Pedro1D. Salazar2C. Costa3J. Aragão Rodrigues4M. M. Costa5A. Grangeia6J. L. Castedo7D. Carvalho8Department of Endocrinology, Diabetes and Metabolism of Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Endocrinology, Diabetes and Metabolism of Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Endocrinology, Diabetes and Metabolism of Centro Hospitalar Universitário de São João, Porto, PortugalPortuguese Institute of Oncology, Porto, PortugalDepartment of Pathology of Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Endocrinology, Diabetes and Metabolism of Hospital Garcia de Orta, Porto, PortugalFaculty of Medicine of the Universidade do Porto, Porto, PortugalDepartment of Endocrinology, Diabetes and Metabolism of Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Endocrinology, Diabetes and Metabolism of Centro Hospitalar Universitário de São João, Porto, PortugalPrimary 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, in armadillo 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.http://dx.doi.org/10.1155/2020/8848151 |
| spellingShingle | M. J. Ferreira J. Pedro D. Salazar C. Costa J. Aragão Rodrigues M. M. Costa A. Grangeia J. L. Castedo D. Carvalho ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report Case Reports in Endocrinology |
| title | ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report |
| title_full | ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report |
| title_fullStr | ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report |
| title_full_unstemmed | ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report |
| title_short | ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report |
| title_sort | armc5 primary bilateral macronodular adrenal hyperplasia associated with a meningioma a family report |
| url | http://dx.doi.org/10.1155/2020/8848151 |
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