Searchable abstracts of presentations at key conferences in endocrinology

ea0094cc1 | Section | SFEBES2023

Primary Unilateral Macronodular Adrenal Hyperplasia (PUMAH) With Concomitant Glucocorticoid And Androgen Excess due to KDM1A inactivation and constitute MC2R activation

Elhassan Yasir , Appenzeller Silke , Landwehr Laura , Popat Dillon , Gilligan Lorna , Goh Edwina , Diaz-Cano Salvador , Kircher Stefan , Gramlich Susanne , Sutcliffe Robert , Thangaratinam Shakila , Chan Li , Fassnacht Martin , Arlt Wiebke , Ronchi Cristina

Clinical vignette: We investigated a 33-year-old woman diagnosed during pregnancy with a 7cm unilateral adrenal mass associated with severe ACTH-independent glucocorticoid and androgen excess, a steroid phenotype usually indicative of adrenocortical carcinoma. Pregnancy had been achieved with in-vitro fertilisation on the assumption of underlying PCOS. Neonatal death occurred soon after emergency delivery due to foetal growth arrest at 26 weeks gestation. Hist...

ea0099ep919 | Adrenal and Cardiovascular Endocrinology | ECE2024

Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation

Elhassan Yasir , Appenzeller Silke , Landwehr Laura-Sophie , Lippert Juliane , Popat Dillon , C. Gilligan Lorna , Abdi Lida , Goh Edwina , Diaz-Cano Salvador , Kircher Stefan , Gramlich Susanne , Sutcliffe Robert , Thangaratinam Shakila , Chan Li , Fassnacht Martin , Arlt Wiebke , L Ronchi Cristina

Background: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome. Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess has never been studied before.Methods: We investigated a woman with a large, heterogeneous 7 cm adrenal mass (with a radiologically normal contralateral adrenal) and adrenocorticotropic hormone (ACTH)-independent glucocorticoid and androge...