Cargando…

A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report

BACKGROUND: Primary bilateral macronodular adrenal hyperplasia (PBMAH), also known as adrenocorticotropic hormone (ACTH)-independent macronodular adrenal hyperplasia, is a rare cause of endogenous Cushing’s syndrome. In many familial cases of PBMAH, the variants in armadillo repeat containing 5 (ARM...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Wei, Wei, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396781/ https://www.ncbi.nlm.nih.gov/pubmed/35996143 http://dx.doi.org/10.1186/s12902-022-01128-x

Ejemplares similares

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
por: Yu, Liping, et al.
Publicado: (2018)

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)
por: Rego, Teresa, et al.
Publicado: (2017)

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report
por: Ferreira, M. J., et al.
Publicado: (2020)

Primary Macronodular Adrenal Hyperplasia Associated With Autosomal Dominant ARMC5 Mutation
por: Kerut, Sarah Elizabeth, et al.
Publicado: (2021)

ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers
por: Kyo, Chika, et al.
Publicado: (2019)

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing
por: Eghbali, Maryam, et al.
Publicado: (2022)

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia
por: He, Wen-Tao, et al.
Publicado: (2021)

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations
por: Tang, Peng, et al.
Publicado: (2023)

Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia
por: Vena, Walter, et al.
Publicado: (2022)

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report
por: Liu, Qiuli, et al.
Publicado: (2018)

Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report
por: Jin, Ping, et al.
Publicado: (2018)

New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)
por: Giacché, Mara, et al.
Publicado: (2023)

OR12-3 Identification of Predictive Criteria for the Primary Bilateral Macronodular Adrenal Hyperplasia Gene ARMC5: A European Series of 352 Unselected Patients.
por: Assié, Guillaume, et al.
Publicado: (2022)

OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia
por: Armignacco, Roberta, et al.
Publicado: (2022)

SAT-193 Clinical Case of ARMC5 Tumor Syndrome: A Rare Case of Cushing’s Syndrome from Primary Bilateral Macronodular Adrenal Hyperplasia Caused by ARMC5 Mutation with Concomitant Presence of Meningiomas and Primary Hyperparathyroidism
por: Parikh, Sahil, et al.
Publicado: (2020)

SUN-382 Heterogeneous Clinical Presentation In Familial Cases Of Primary Macronodular Adrenal Hyperplasia (PMAH): The Influence Of Somatic Event Of ARMC5.
por: Brondani, Vânia, et al.
Publicado: (2019)

MON-209 Identification of a New Heterozygous Germline ARMC5 Deletion in a Familial Case of Primary Bilateral Macronodular Adrenal Hyperplasia Co-Secreting Cortisol and Aldosterone
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2020)

The effect of unilateral adrenalectomy on patients with primary bilateral macronodular adrenal hyperplasia
por: Yu, Zhongwei, et al.
Publicado: (2023)

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia
por: Wurth, Rachel, et al.
Publicado: (2020)

Mifepristone Treatment in Four Cases of Primary Bilateral Macronodular Adrenal Hyperplasia (BMAH)
por: Cohan, Pejman, et al.
Publicado: (2019)

Coexistence of Myelolipoma and Primary Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome
por: Larose, Stéphanie, et al.
Publicado: (2019)

Cell-To-Cell Communication in Bilateral Macronodular Adrenal Hyperplasia Causing Hypercortisolism
por: Lefebvre, Hervé, et al.
Publicado: (2015)

ODP018 A Case of Cushing's Syndrome due to Primary Bilateral Macronodular Adrenal Hyperplasia
por: Veluru, Manasa, et al.
Publicado: (2022)

FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
por: Ortiz, Yineli, et al.
Publicado: (2023)

Resolution of manic symptoms following unilateral adrenalectomy in patient with primary bilateral macronodular adrenal hyperplasia
por: Rosenfeld, Benjamin H., et al.
Publicado: (2022)

Long-term low-dose ketoconazole treatment in bilateral macronodular adrenal hyperplasia
por: Comte-Perret, Sophie, et al.
Publicado: (2014)

Maffucci Syndrome Associated With Adrenocorticotropic Hormone–Independent Bilateral Macronodular Adrenal Hyperplasia
por: Tricò, Domenico, et al.
Publicado: (2017)

A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia
por: Yoshiaki Tanno, Fabio, et al.
Publicado: (2020)

A Case of Severe Psychosis Due to Cushing's Syndrome Secondary to Primary Bilateral Macronodular Adrenal Hyperplasia
por: Shah, Kajal, et al.
Publicado: (2019)

SUN-390 A Rare Case of Bilateral Macronodular Adrenal Hyperplasia Discovered Incidentally
por: Penaherrera, Carlos, et al.
Publicado: (2019)

Unlikely Coexistence of Sporadic Pheochromocytoma and Bilateral Macronodular Adrenal Hyperplasia: A Challenge to Manage
por: Dinh, Kathryn, et al.
Publicado: (2021)

SUN-354 Quality of Life in Patients with Primary Macronodular Adrenal Hyperplasia
por: Charchar, Helaine, et al.
Publicado: (2019)

AB191. Laparoscopic subcutaneous transposition of a pedicled adrenal for ACTH-independent bilateral macronodular adrenal hyperplasia
por: Zhang, Weixing, et al.
Publicado: (2016)

Intermittent Blurry Vision: An Unexpected Presentation of Cushing’s Syndrome Due to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH)
por: Fernandez, Christopher, et al.
Publicado: (2022)

The role of adrenal venous sampling (AVS) in primary bilateral macronodular adrenocortical hyperplasia (PBMAH): a study of 16 patients
por: Rubinstein, German, et al.
Publicado: (2022)

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia
por: Lao, Linjiang, et al.
Publicado: (2022)

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules
por: Mariani, Beatriz Marinho de Paula, et al.
Publicado: (2020)

Retention of aberrant cortisol secretion in a patient with bilateral macronodular adrenal hyperplasia after unilateral adrenalectomy
por: Tanaka, Sho, et al.
Publicado: (2019)

A case of renovascular hypertension with incidental primary bilateral macronodular adrenocortical hyperplasia
por: Higashitani, Takuya, et al.
Publicado: (2020)

Macronodular adrenal hyperplasia masquerading as an upper pole renal mass
por: Owens-Walton, Jeunice, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_p31n4ae10k8g9kl9ka2t3vjfr0