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ea0093oc4 | Oral communication 1: Adrenal Diseases | EYES2023

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD): Results of its systematic search in bilateral nodular adrenal disease

Vaduva Patricia , Violon Florian , Raverot Gerald , Espiard Stephanie , Attia Amina , Bouys Lucas , Perlemoine Karine , Chasavang Albin , Hieronimus Sylvie , Vantyghem Marie Christine , Polak Michel , Bruno Ragazzon , Jouinot Anne , Pasmant Eric , Bertherat Jerome

Background: Constitutional duplications of the PRKACA gene locus have been described as responsible for adrenal Cushings disease.The objective here was to evaluate the results of its systematic screening in bilateral adrenal nodular disease and to specify the associated phenotype.Methods: Between 2020 and 2023, 440 consecutive index cases with macronodular or micronodular adrenal hyperplasia or Carney Complex (CNC) w...

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Endocrine Abstracts

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD): Results of its systematic search in bilateral nodular adrenal disease

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