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Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease
Isadora P Cavalcante1, Annabel Berthon1, Maria C Fragoso2
1Université Paris Cité, Institut Cochin, Inserm U1016, CNRS UMR8104, Paris, France.
Nature Reviews. Endocrinology
|August 3, 2022
Summary
Primary bilateral macronodular adrenal hyperplasia (PBMAH) is increasingly diagnosed. Recent genetic discoveries reveal PBMAH is a distinct genetic disorder, improving understanding of its diverse causes and clinical presentations.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a recognized cause of Cushing syndrome.
- Advances in adrenal incidentaloma diagnostics have increased PBMAH detection rates.
- PBMAH was recently identified as a genetic disorder, challenging previous perceptions.
Purpose of the Study:
- To review recent advancements in understanding the genetic basis of PBMAH.
- To explore the molecular heterogeneity and genetic subgroups of PBMAH.
- To connect genetic findings to PBMAH pathophysiology and clinical heterogeneity.
Main Methods:
- Genomic studies and molecular analyses.
- Identification and characterization of causative genes.
- Review of clinical and genetic data from PBMAH patients.
Main Results:
- Genomics revealed significant molecular heterogeneity in PBMAH.
- Constitutive inactivating variants in ARMC5 and KDM1A are key genetic drivers.
- ARMC5 variants account for 20-25% of PBMAH cases; KDM1A alterations are found in >90% of food-dependent Cushing syndrome cases.
Conclusions:
- PBMAH is a genetically determined disorder, despite adult onset.
- Understanding PBMAH genetics clarifies pathophysiology and opens new clinical avenues.
- Continued research into PBMAH genetics is crucial for improved diagnostics and therapeutics.
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