Searchable abstracts of presentations at key conferences in endocrinology

ea0070oc7.3 | Endocrine-related Cancer | ECE2020

Sterol O-Acyl transferase 1 as a prognostic marker of adrenocortical carcinoma

Ferreira Lacombe Amanda M , Cauduro Soares Ibere , Bezerra-Neto João Evangelista , da Silva Charchar Helaine , Hoff Ana O , Almeida Madson Q , Weigand Isabel , Kroiss Matthias , Nogueira Zerbini Maria Claudia , Barisson Villares Fragoso Maria Candida

Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with an unfavorable prognosis. Despite the poor prognosis in the majority of patients, no improvements in treatment strategies have been achieved. Therefore, the discovery of new prognostic biomarkers is of enormous interest. Sterol-O-acyl transferase 1 (SOAT1) is involved in cholesterol esterification and lipid droplet formation. Recently, it was demonstrated that SOAT1 inhibition leads to impaired steroidogenesis ...

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 Cushing’s syndrome (FDCS), consecutive to the illegitimate expression of the GIP recepto...