Endocrine Abstracts

Understanding of the molecular pathogenesis of adrenocortical neoplasias has been greatly advanced by exome sequencing demonstrating in Conn adenomas hot spot mutations in KCJN5, ATP1A1, ATP2B in a substantial subgroup of patients. Current work now demonstrates that constitutive activation of the cAMP – PKA pathway not only causes rare bilateral hyperplasias like PPNAD, but is also involved in a high percentage of cortisol producing adenomas. Intriguingly, this hot spot m...