Bilateral Adrenalectomy for Primary Bilateral Macronodular Adrenocortical Hyperplasia With a Novel <i>ARMC5</i> Mutation Site.

ABSTRACT: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a heterogeneous disorder, with clinical spectrum ranging from subclinical to severe overt Cushing syndrome (CS). Armadillo repeat containing 5 (ARMC5) mutations, found in 20-55% of cases, are often associated with more severe disease, and specific genotypes may correlate with distinct phenotypes. A 60-year-old woman was admitted with a 1-year history of progressive weight gain and hypokalemia, alongside a 13-year history of refractory hypertension. She exhibited classic CS features and metabolic complications, including hypertension and diabetes. Laboratory tests revealed elevated cortisol, suppressed adrenocorticotropic hormone (ACTH), and positive low- and high-dose dexamethasone suppression tests. Contrast-enhan

SUBMITTER: Yu CG 

PROVIDER: S-EPMC12758087 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature