4.6 Article

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

KDM1A inactivation causes hereditary food-dependent Cushing syndrome

Anna Vaczlavik et al.

Summary: This study identified KDM1A gene inactivation as the cause of food-dependent Cushing syndrome (FDCS) in 90% of primary bilateral macronodular adrenal hyperplasia (PBMAH) cases. Through multiomics analysis of patient tissues, the study classified patients into different molecular groups and suggested genetic screening for ARMC5 and KDM1A for earlier diagnosis and improved management.

GENETICS IN MEDICINE (2022)

Article Endocrinology & Metabolism

Role of unilateral adrenalectomy in bilateral adrenal hyperplasias with Cushing's syndrome

Leamarie Meloche-Dumas et al.

Summary: Primary bilateral adrenocortical hyperplasias are rare forms of pituitary ACTH-independent Cushing's syndrome, with treatment options including bilateral adrenalectomy and unilateral adrenalectomy, as well as medical therapies.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Review Endocrinology & Metabolism

Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)

Lucas Bouys et al.

Summary: PBMAH is a rare and heterogeneous disease characterized by bilateral benign adrenal macronodules, with some cases associated with genetic factors. Rigorous biochemical and imaging assessment is crucial in the management of this disease.

ENDOCRINE (2021)

Article Endocrinology & Metabolism

Unilateral Adrenalectomy for Primary Bilateral Macronodular Adrenal Hyperplasia: Analysis of 71 Cases

Mohammad Sheikh-Ahmad et al.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2020)

Article Endocrinology & Metabolism

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report

Teruo Jojima et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2020)

Article Endocrinology & Metabolism

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report

M. J. Ferreira et al.

CASE REPORTS IN ENDOCRINOLOGY (2020)

Article Endocrinology & Metabolism

A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia

Fabio Yoshiaki Tanno et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2020)

Article Endocrinology & Metabolism

Long-Term Outcome of Primary Bilateral Macronodular Adrenocortical Hyperplasia After Unilateral Adrenalectomy

Andrea Osswald et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Gastroenterology & Hepatology

Characteristics of Adrenal Masses in Familial Adenomatous Polyposis

Jonah S. Shiroky et al.

DISEASES OF THE COLON & RECTUM (2018)

Article Cell Biology

The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH)

Isadora P. Cavalcante et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2018)

Article Endocrinology & Metabolism

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia

Ricardo Correa et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Unilateral Adrenalectomy as a First-Line Treatment of Cushing's Syndrome in Patients With Primary Bilateral Macronodular Adrenal Hyperplasia

Emmanuelle Debillon et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

Stephanie Espiard et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

ARMC5 Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia

Lucia Gagliardi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

Guilherme Asmar Alencar et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation

Fabio R. Faucz et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Urology & Nephrology

Adrenal Nodular Hyperplasia in Hereditary Leiomyomatosis and Renal Cell Cancer

Brian Shuch et al.

JOURNAL OF UROLOGY (2013)

Article Medicine, General & Internal

ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome

Guillaume Assie et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

Intraadrenal Corticotropin in Bilateral Macronodular Adrenal Hyperplasia

Estelle Louiset et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Endocrinology & Metabolism

Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'e ' tude des Tumeurs Endocrines database

B. Gatta-Cherifi et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

Cushing Syndrome in the McCune-Albright Syndrome

Rebecca J. Brown et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)