Cited by 73Adrenal and Paraganglionic TumorsAdrenal Hormones and DisordersPituitary Gland Disorders and Treatments

Primary bilateral macronodular adrenal hyperplasia

De Venanzi, Agostino, Alencar, Guilherme Asmar, Bourdeau, Isabelle, Fragoso, Maria Candida Barisson Villares, Lacroix, André·2014·Current Opinion in Endocrinology, Diabetes & Obesity

Abstract

PURPOSE OF REVIEW: Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome and is more often diagnosed as bilateral adrenal incidentalomas with subclinical cortisol production. We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options. RECENT FINDINGS: Recent publications have modified our notions on the genetics and pathophysiology of bilateral macronodular adrenal hyperplasia. Combined germline and somatic mutations of armadillo repeat containing 5 gene were identified in familial cases, in approximately 50% of apparently sporadic cases and in the relatives of index cases; genetic testing should allow early diagnosis in the near future. The recent finding of ectopic adrenocortical production of adrenocorticotropic hormone in clusters of bilateral macronodular adrenal hyperplasia tissues and its regulation by aberrant hormone receptors opens new horizons for eventual medical therapy using melanocortin-2 receptor and G-protein-coupled receptor antagonists. Finally, some medical and surgical treatments have been updated. SUMMARY: Recent findings indicate that bilateral macronodular adrenal hyperplasia is more frequently genetically determined than previously believed. Considering the role of paracrine adrenocorticotropic hormone production on cortisol secretion, the previous nomenclature of adrenocorticotropic hormone-independent macronodular adrenal hyperplasia appears inappropriate, and this disease should now be named primary bilateral macronodular adrenal hyperplasia.

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Crossref · 10.1097/med.0000000000000061

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91 of 91 references verified0 citation errors · 0 not checkable

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  • PBMAH is suspected when there are bilateral AI and evidence of ACS.

    “PBMAH is suspected when there are bilateral AI and evidence of ACS (323).”

    From Adrenal incidentaloma (2020) · cites this paper as [323]

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Authors
De Venanzi, A., Alencar, G. A., Bourdeau, I., Fragoso, M. C. B. V., & Lacroix, A.
Affiliations
  • Universidade de São Paulo (BR)
  • Centre Hospitalier de l’Université de Montréal (CA)
Corresponding author
Lacroix, André
Venue
Current Opinion in Endocrinology, Diabetes & Obesity
Published
2014-06
Volume
21
Issue
3
Pages
177-184
ISSN
1752-296X (ISSN-L)
OpenAlex
W2154485413
Cited by
73
References
91
Citations by year
2026: 3 · 2025: 5 · 2023: 3 · 2022: 10 · 2021: 11 · 2020: 9 · 2019: 8 · 2018: 5 · 2017: 3 · 2016: 7 · 2015: 5 · 2014: 4
FWCI
1.19
Type
journal article
Language
en
Open access
closed
Locations
  • Current Opinion in Endocrinology Diabetes and Obesity (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
Keywords
primary bilateral macronodular adrenal hyperplasia, Cushing's syndrome, germline and somatic mutations, G protein-coupled receptor antagonists, medical therapy, surgical treatment, genetic testing
MeSH terms
Adrenal Cortex, Adrenal Glands, Adrenalectomy, Adrenocorticotropic Hormone, Cushing Syndrome, Female, Humans, Hyperplasia, Male, Terminology as Topic, Tumor Suppressor Proteins, Receptors, G-Protein-Coupled, Receptor, Melanocortin, Type 2, Armadillo Domain Proteins

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