Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.

Morelli ValentinaElli Francesca MartaFrigerio SofiaVena WalterPalmieri SerenaLucca CamillaMaffini Maria AntoniaContarino AndreaBagnaresi FrancescaMantovani Giovanna Arosio Maura

Published in: European journal of endocrinology (2023)

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.

Keyphrases

end stage renal disease
copy number
newly diagnosed
chronic kidney disease
prognostic factors
wild type
risk factors
gene expression
transcription factor
patient reported outcomes
dna repair