Detection of GLAS in BMAD patients with ARMC5 pathogenic variants

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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.

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