Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas
Authors' conclusion
In MACS+ BAI patients, germline ARMC5 gene pathogenic variants are frequent. Further studies are needed to elucidate the pathophysiological role of somatic ARMC5 pathogenic variants on adrenal tumor development in otherwise wild-type (WT) patients.
Study context
- Population
- Patients with bilateral adrenal incidentaloma (BAI), tertiary care center
- Participants
- 72 patients
- Exposure
- MACS+ vs Without MACS
- Outcome
- Prevalence of germline ARMC5 pathogenic variants
Methodological detailssingle-centre, tertiary care center
- Single-centre
- Tertiary care center
Main finding
As reported in the abstract
MACS+
18.8%
Observational data: associations, not effects.
Further findings
Somatic ARMC5 pathogenic variants in adrenal tissue of patients without germline variants
- Patients with somatic ARMC5 pathogenic variants
- 6
F-1mgDST >5 µg/dL for identifying ARMC5 germline pathogenic variants
- Specificity
- 90.5%
- Sensitivity
- poor
Clinical predictors of ARMC5 mutation
- No clinical parameter predictive of ARMC5 mutation presence
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas. Eur J Endocrinol. Published 25 August 2023. doi:10.
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