Review
Endocrinology & Metabolism
Jerome Bertherat, Isabelle Bourdeau, Lucas Bouys, Fanny Chasseloup, Peter Kamenicky, Andre Lacroix
Summary: Patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) have bilateral benign adrenocortical macronodules and variable levels of cortisol excess. Genetic mutations in ARMC5 and KDM1A genes are associated with PBMAH and can be detected through genetic analysis. Detailed assessment of PBMAH is crucial for management decisions, and treatment options include adrenalectomy, medical treatment with cortisol synthesis inhibitors, or specific blockers of aberrant GPCR.
Article
Genetics & Heredity
Walter Vena, Valentina Morelli, Maria Carrabba, Francesca Elli, Giovanna Fabio, Ilaria Muller, Camilla Lucca, Maria Antonia Maffini, Andrea Gerardo Lania, Giovanna Mantovani, Maura Arosio
Summary: This article reports the first case of a patient with PBMAH accompanied by hypogammaglobulinemia and monthly relapsing human herpes simplex viral infections. After adrenalectomy, there was a significant improvement in clinical features related to hypercortisolism and relapsing viral infections, suggesting a possible adjuvant role of hypercortisolism on a genetic-based derangement of the immune system.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Xuzhi Yan, Yapeng Wang, Shuo Wang, Yao Zhang, Gaolei Liu, Jing Xu, Yiqiang Huang, Dianzheng Zhang, Qiuli Liu, Jun Jiang, Weihua Lan
Summary: This case report describes a 39-year-old male patient with primary bilateral macronodular adrenocortical hyperplasia (PBMAH) and the presence of ARMC5 germline and somatic mutations. The patient presented with typical symptoms of Cushing syndrome and its complications. Genetic testing is crucial for the diagnosis and management of PBMAH.
BMC ENDOCRINE DISORDERS
(2023)
Article
Endocrinology & Metabolism
Fanny Chasseloup, Isabelle Bourdeau, Antoine Tabarin, Daniela Regazzo, Charles Dumontet, Nataly Ladurelle, Lucie Tosca, Larbi Amazit, Alexis Proust, Raphael Scharfmann, Tiphaine Mignot, Frederic Fiore, Stylianos Tsagarakis, Dimitra Vassiliadi, Dominique Maiter, Jacques Young, Anne-Lise Lecoq, Vianney Demeocq, Sylvie Salenave, Herve Lefebvre, Lucie Cloix, Philippe Emy, Rachel Dessailloud, Delphine Vezzosi, Carla Scaroni, Mattia Barbot, Wouter de Herder, Francois Pattou, Martine Tetreault, Gilles Corbeil, Margot Dupeux, Benoit Lambert, Gerard Tachdjian, Anne Guiochon-Mantel, Isabelle Beau, Philippe Chanson, Say Viengchareun, Andre Lacroix, Jerome Bouligand, Peter Kamenicky
Summary: In this study, patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome were found to have genetic defects in the KDM1A gene, leading to upregulation of the GIP receptor. In vitro experiments showed that inhibition of KDM1A resulted in increased GIP receptor expression in human adrenocortical cells.
LANCET DIABETES & ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
N. Bengoa-Rojano, M. Fernandez-Argueso, J. Botella-Carretero, E. Pascual-Corrales, M. Araujo-Castro
Summary: This study evaluated the prevalence of primary bilateral macronodular adrenal hyperplasia (PBMAH) and analyzed the differential phenotype. Patients with PBMAH exhibited higher autonomous cortisol secretion, larger tumor size, and a higher rate of diabetes compared to those without PBMAH.
REVISTA CLINICA ESPANOLA
(2022)
Review
Endocrinology & Metabolism
Lucas Bouys, Iacopo Chiodini, Wiebke Arlt, Martin Reincke, Jerome Bertherat
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.
Review
Endocrinology & Metabolism
Marta Araujo-Castro, Monica Marazuela
Summary: Cushing's syndrome can be caused by bilateral adrenal cortical disease, which can be classified into macronodular and micronodular types. Surgery is the preferred treatment for macronodular disease, while medical treatment can be used to control micronodular disease. The high-dose dexamethasone suppression test is useful in identifying primary pigmented nodular adrenocortical disease with a certain degree of specificity.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Wei Wang, Feng Wei
Summary: A case of PBMAH with a novel frameshift variant in the ARMC5 gene is reported, highlighting the importance of early detection of the variant and familial screening for clinical implications.
BMC ENDOCRINE DISORDERS
(2022)
Article
Medicine, General & Internal
Bastiaan Sol, Marilyn Carprieaux, Nico De Leu
Summary: A woman in her 60s presented with chronic fatigue, depressed mood and muscle weakness. Lab tests indicated endogenous ACTH-independent Cushing syndrome. Imaging showed bilateral macronodular adrenals. Pathology confirmed primary bilateral macronodular adrenal hyperplasia. The patient showed gradual recovery after bilateral adrenalectomy.
Article
Endocrinology & Metabolism
Maria Luiza Anhaia de Arruda Botelho, Mirian Yumie Nishi, Karina Braga Ribeiro, Maria Claudia Nogueira Zerbini
Summary: Bilateral macronodular adrenocortical disease (BMAD) is a neoplastic disease with a high frequency of germline disease. The morphological and immunohistochemical characteristics of BMAD were evaluated by studying Armadillo repeat containing 5 (ARMC5) pathogenic variants (PVs). The presence of pseudo-glandular and/or trabecular patterns and capsular extrusion indicated the presence of pathogenic variants of ARMC5 in BMAD.
ENDOCRINE PATHOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Benjamin Chevalier, Marie-Christine Vantyghem, Stephanie Espiard
Summary: Bilateral adrenal hyperplasia is a rare cause of Cushing's syndrome and can be distinguished by the size of nodules. Identification of causal genes and genetic counseling are helpful for diagnosis, with current focus on unilateral adrenalectomy in treatment.
Article
Endocrinology & Metabolism
Leamarie Meloche-Dumas, Frederic Mercier, Andre Lacroix
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)
Article
Endocrinology & Metabolism
Rachel Wurth, Amit Tirosh, Crystal D. C. Kamilaris, Jancarlos Camacho, Fabio R. Faucz, Andrea Gutierrez Maria, Annabel Berthon, Georgios Z. Papadakis, Naris Nilubol, Ahmed Hamimi, Ahmed M. Gharib, Andrew Demidowich, Mihail Zilbermint, Graeme Eisenhofer, Leah Braun, Martin Reincke, Constantine A. Stratakis, Fady Hannah-Shmouni
Summary: This study conducted volumetric modeling of adrenal gland size in 44 patients with PBMAH, showing a positive correlation between adrenal volume and biochemical disease severity in Black patients, providing a useful tool for assessing PBMAH in this population.
JOURNAL OF THE ENDOCRINE SOCIETY
(2021)
Article
Endocrinology & Metabolism
Meng-Si Liu, Zhao-Yang Tian, Zhou Zhang, Fan Yang, Yuan Lou, Yi-Jie Wang, Yang-Jie Zeng, Zi-Wei Zhang, Da-Long Zhu, Ping Li
Summary: This study is the first to report impaired cognitive function in patients with autonomous cortisol secretion (ACS). Cognitive function assessment should be incorporated into the clinical evaluation of patients with ACS.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Christopher Fernandez, Smriti Bhatia, Ariana Rucker, Lee Celio
Summary: Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure to high levels of glucocorticoids. This case report describes a female patient who presented with chronic resistant hypertension, blurry vision, weight gain, and wasting of extremities, and was diagnosed with Cushing's syndrome due to PBMAH.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)