Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp13 | Adrenal and Neuroendocrine - Tumour | ECE2019

KCTD20, a new gene in cortisol-secreting adrenocortical tumors related to inactivating mutations of the Carney Complex gene (PRKAR1A)

Briere Mathilde , Ragazzon Bruno , Yu Bo , Bouchekioua Abdelghani , Bertherat Jerome , Rizk-Rabin Marthe

Introduction: Adrenal Cushing due to bilateral multiple adrenal tumors known as Primary Pigmented Nodular Adrenocortical Disease (PPNAD) can be observed in the multiple neoplasia syndrome Carney Complex or as an isolated disease. In both situations germline inactivating mutations of PRKAR1A (regulatory subunit R1A of PKA) can be observed. The loss of PKA R1A results in an increased PKA activity. Comparison of the transcriptome of PPNAD and stably transfected H295R adr...

ea0056gp38 | Adrenal cortex | ECE2018

Identification of a new target of PRKAR1A (Carney complex gene): KCTD20 (potassium channel tetramerization domain containing 20) and study of its role in adrenal Cushing

Ragazzonn Bruno , Yu Bo , Bouchekioua Abdelghani , Bertherat Jerome , Rizk-Rabin Marthe

Introduction: The inactivating mutations of the Carney complex gene PRKAR1A (regulatory subunit RIA of PKA) cause bilateral adrenocortical tumors (PPNAD: Primary Pigmented Nodular Adrenocorticel disease) over-secreting cortisol. This leads to stimulation of PKA activity, however the mechanisms of adrenal tumorigenesis and cortisol dysregulation are not fully understood. In order to identify target genes of PRKAR1A inactivation in adrenal cortex we undertook a comparat...