Nodule density on CT-scan correlates with CYP11B1 expression in a patient with ARMC5 mutated primary bilateral macronodular adrenal hyperplasia.

ABSTRACT:

Purpose

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare subtype of Cushing's syndrome, with some cases exhibiting a familial aggregation tendency. The heterogenous expression of CYP11B1 mRNA among multiple adrenal nodules in PBMAH had not been previously reported. This study aims to investigate the correlation between CYP11B1 mRNA expression and Hounsfield unit (Hu) density in computed tomography (CT) scans in a patient with ARMC5 mutated PBMAH.

Methods

A 47-year-old male came to our hospital for headache and hypertension. He was diagnosed as PBMAH later and received adrenalectomy. DNA sequencing was performed on the patient's peripheral blood, his relatives' peripheral blood, and the patient's adrenal tissues. Additionally, four different adrenal nodule

SUBMITTER: Wang F 

PROVIDER: S-EPMC12308895 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature