Searchable abstracts of presentations at key conferences in endocrinology

ea0094p157 | Adrenal and Cardiovascular | SFEBES2023

Identification of a novel constitutively active Gαs variant associated with cortisol-producing adrenocortical adenoma

Jamaluddin Aqfan , Wyatt Rachael , Pasaliu Andreea , Ruggles Oliver , Calebiro Davide , Gorvin Caroline , Ronchi Cristina L.

Adrenocortical adenomas are among the most commonly identified human neoplasias, with a prevalence of 2-3% in the population. In some cases they are associated with autonomous cortisol excess that leads to increased morbidity and mortality. Altered cAMP/protein kinase A (PKA) signalling is common in sporadic cortisol-producing adenomas (CPA), mostly caused by somatic mutations in the genes coding for the catalytic subunit α of PKA (PRKACA) or the stimulatory G-pr...