University of Padua

Detection of GLAS in BMAD patients with ARMC5 pathogenic variants

Ceccato, Filippo and Crimì, Filippo (2026) Detection of GLAS in BMAD patients with ARMC5 pathogenic variants. [Data Collection]

Collection description

Background: Bilateral macronodular adrenal disease (BMAD) is a rare disorder characterized by bilateral benign macronodules and variable degrees of hypercortisolism. Pathogenic variants in ARMC5 and KDM1A represent the best-established genetic etiologies. However, it remains uncertain whether quantitative/qualitative CT evaluation characterizes genetically mutated patients. Purpose: To evaluate CT morphological and dimensional differences in BMAD patients with and without ARMC5 pathogenic variants. Materials and Methods: Retrospective single-center study of 101 genetically characterized BMAD patients (66 women; median age, 63 years). CT scans were independently analyzed by three reader teams blinded to clinical/genetic data. Genetic testing was used as reference standard for statistics.

DOI: 10.25430/researchdata.cab.unipd.it.00001923
Keywords: cushing's syndrome; grape-like adrenal sign
Subjects: Life Sciences > Physiology, Pathophysiology and Endocrinology: Organ physiology, pathophysiology, endocrinology, metabolism, ageing, tumorigenesis, cardiovascular diseases, metabolic syndromes > Organ physiology and pathophysiology
Department: Departments > Dipartimento di Medicina (DIMED)
Depositing User: Filippo Ceccato
Date Deposited: 18 Sep 2026 10:54
Last Modified: 18 Sep 2026 10:54
Creators/Authors:
CreatorsEmailORCID
Ceccato, Filippofilippo.ceccato@unipd.itorcid.org/0000-0003-1456-8716
Crimì, Filippofilippo.crimi@unipd.itorcid.org/0000-0001-6822-1430
Type of data: Text
Collection period:
FromTo
20072025
Resource language: english
Metadata language: english
Publisher: Research Data Unipd
Date: 18 September 2026
Copyright holders: The Author
URI: https://researchdata.cab.unipd.it/id/eprint/1923

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