Genetics and clinical characteristics of Korean patients with bilateral macronodular adrenocortical disease
Authors' conclusion
This study in a Korean cohort with BMAD showed that P/LP ARMC5 variants were present in 22.9% of the genetically investigated patients and were associated with more severe radiological and steroidogenic features. These findings underscore the importance of closely monitoring patients with BMAD who carry ARMC5 P/LP variants.
Study context
- Population
- Korean patients with bilateral macronodular adrenocortical disease (BMAD), Seoul National University Hospital (2009–2023); mean age 66.4 years, 58% male35 had WES
- Participants
- 69 patients
- Exposure
- P/LP ARMC5 variant carriers vs non-carriers
- Outcome
- Prevalence of pathogenic variants and genotype-phenotype correlations
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
P/LP ARMC5 variants among genetically tested patients
Harbored P/LP variants in ARMC5 (of 35 tested)
22.9%
Observational data: associations, not effects.
Further findings
Cortisol secretion phenotype
- Mild autonomous cortisol secretion
- 79.7%
- Overt Cushing syndrome
- 15.9%
Clinical and imaging features, carriers vs non-carriers
- BMI lower in carriers
- 25.0 vs 27.4 kg/m²
- Maximal tumour diameter larger in carriers
- 4.1 vs 2.7 cm
- Total adrenal volume greater in carriers
- 19.8 vs 15.3 cm³
Serum steroids by LC-MS/MS, carriers vs non-carriers
- Cortisol significantly higher in carriers
- 153.1 vs 100.6 ng/mL
- Corticosterone significantly higher in carriers
- 16.5 vs 1.3 ng/mL
- 18-hydroxycortisol significantly higher in carriers
- 1.66 vs .66 ng/mL
- P < .05
Original publication
Genetics and clinical characteristics of Korean patients with bilateral macronodular adrenocortical disease. Eur J Endocrinol. Published 19 January 2026. doi:10.
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