Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep1228 | Late Breaking | ECE2024

Primary bilateral macronodular adrenal hyperplasia caused by a novel variant in the ARMC5 gene

Lopes-Pinto Mariana , M Travessa Andre , Paula Ricca Lacerda Nobre M Caetano Ema , Paula Barbosa Ana

Introduction: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) represents <2% of all causes of Cushing’s Syndrome (CS). Clinical course is insidious, with adrenal bilateral macronodules and gradual cortisol excess, only rarely presenting with overt CS. The pathophysiology remains unclear in most cases; however, pathogenic variants in the onco-supressor ARMC5 gene are described in 25-50% of PBMAH and may confer a more severe clinical course. <p class="abs...