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ea0099oc11.5 | Oral Communications 11: Adrenal and Cardiovascular Endocrinology | Part II | ECE2024

Results of systematic KDM1A genotyping in a large series of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) patients and analysis of the genotype/phenotype correlation

Bouys Lucas , Vaczlavik Anna , Vaduva Patricia , Jouinot Anne , Violon Florian , Berthon Annabel , Kamenicky Peter , Chasseloup Fanny , Espiard Stephanie , Vantyghem Marie-Christine , Tabarin Antoine , Haissaguerre Magalie , Raverot Gerald , Borson-Chazot Francoise , Barisson Villares Fragoso Maria Candida , Helaine Charchar , Reincke Martin , Matthias Kroiss , Stratakis Constantine A. , Kamilaris Crystal , Perlemoine Karine , Groussin Lionel , Tauveron Igor , Barat Maxime , Guignat Laurence , Assie Guillaume , Pasmant Eric , Ragazzon Bruno , Bertherat Jerome

Introduction: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare disease responsible for variable levels of cortisol excess. Constitutional pathogenic variants of the tumor suppressor gene ARMC5 are its most frequent molecular cause (20% of index cases). Recently, KDM1A has been identified as the causing gene for PBMAH associated with food-dependent Cushings syndrome (FDCS), consecutive to the illegitimate expression of the GIP recepto...

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Endocrine Abstracts

Results of systematic KDM1A genotyping in a large series of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) patients and analysis of the genotype/phenotype correlation

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