ReviewNature reviews. Endocrinology2022
Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.
Review in Nature reviews. Endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 50 citations in OpenAlex.
- Global prevalence of genetic carriers for ARMC5- and KDM1A-associated primary bilateral macronodular adrenal hyperplasia: insights from a large multiethnic genomic database.Journal of endocrinological investigation · 2026Article
- Non-incidentally detected adrenal mass: a paradigm shift beyond incidentaloma?Journal of endocrinological investigation · 2026Article
- Hypercortisolism: Causes, Consequences and Clinical Significance - A Review of Pathophysiology.Diabetes, obesity & metabolism · 2026Review
- Molecular pathology of primary aldosteronism and hypercortisolism: Impact on adrenal surgery.iScience · 2026Review
- The Proteome of Bilateral Macronodular Adrenocortical Disease (BMAD) Shows Different Profiles Correlating with the Genetic Causes and Reveals Specific Dysregulation of RNA Polymerase II and Cholesterol Biosynthesis Enzymes.Endocrine pathology · 2026Article
- Recent progress in pathophysiology of cortisol-producing adrenal tumor.Endocrine journal · 2026Review
- First case report of theAME case reports · 2026Article
- A case report of primary bilateral macronodular adrenal hyperplasia caused by a novelFrontiers in medicine · 2026Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia.Endocrine connections · 2025Article
- PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.The Journal of clinical endocrinology and metabolism · 2025Article
- Advancements in the research of the structure, function, and disease-related roles of ARMC5.Frontiers of medicine · 2025Review
- ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report.BMC medical genomics · 2025Article
- The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.Orphanet journal of rare diseases · 2025Review
- Cushing syndrome.Nature reviews. Disease primers · 2025Review
- Editorial: Advances in diagnostics and management of adrenal tumors.Frontiers in endocrinology · 2025Article
- The molecular genetics of adrenal cushing.Hormones (Athens, Greece) · 2024Review
- Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.Endocrine pathology · 2024Article
- ARMC5-negative primary bilateral macronodular adrenal hyperplasia.BMJ case reports · 2023Article
- Transcriptome Profile of the Rat Adrenal Gland: Parenchymal and Interstitial Cells.International journal of molecular sciences · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome. Nowadays, a PBMAH diagnosis is more frequent than previously, as a result of progress in the diagnostic methods for adrenal incidentalomas, which are widely available. Although some rare syndromic forms of PBMAH are known to be of genetic origin, non-syndromic forms of PBMAH have only been recognized as a genetic disease in the past 10 years. Genomics studies have highlighted the molecular heterogeneity of PBMAH and identified molecular subgroups, allowing improved understanding of the clinical heterogeneity of this disease. Furthermore, the generation of these subgroups permitted the identification of new genes responsible for PBMAH. Constitutive inactivating variants in ARMC5 and KDM1A are responsible for the development of distinct forms of PBMAH. To date, pathogenic variants of ARMC5 are responsible for 20-25% of PBMAH, whereas germline KDM1A alterations have been identified in >90% of PBMAH causing food-dependent Cushing syndrome. The identification of pathogenic variants in ARMC5 and KDM1A demonstrated that PBMAH, despite mostly being diagnosed in adults aged 45-60 years, is a genetic disorder. This Review summarizes the important progress made in the past 10 years in understanding the genetics of PBMAH, which have led to a better understanding of the pathophysiology, opening new clinical perspectives.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.