The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

Abstract Background Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 are responsible for 20–25% of apparently sporadic PBMAH cases and 80% o...

Full description

Saved in:
Bibliographic Details
Main Authors: Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ARMC5
Genetics
Adrenal gland
Cushing’s syndrome
Primary Bilateral Macronodular Adrenal Hyperplasia
Cortisol
Online Access:https://doi.org/10.1186/s13023-025-03554-1
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s13023-025-03554-1

Similar Items