Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.

ABSTRACT:

Background

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a highly heterogeneous disease with divergent manifestations ranging from asymptomatic subclinical Cushing syndrome (CS) to overt Cushing syndrome with severe complications. ARMC5 mutations occur in 20 to 55% PBMAH patients usually with more severe phenotypes. Different ARMC5 mutations might be associated with diverse phenotypes of PBMAH.

Case presentation

A 39-year-old man was admitted to our hospital with progressive weight gain and severe hypertension. He presented typical CS and its classical metabolic and bone complications like hypertension and osteoporosis. The laboratory results showed high levels of cortisol and low levels of ACTH. Low- and high-dosed dexamethasone suppression tests were

SUBMITTER: Tang P 

PROVIDER: S-EPMC10080789 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature