ISSN 1662-4009 (online)

ey0020.6-12 | New Paradigms | ESPEYB20

6.12. Regulatory mechanisms of microRNAs in endocrine disorders and their therapeutic potential

SJ Ledesma-Pacheco , AG Uriostegui-Pena , E Rodriguez-Jacinto , E Gomez-Hernandez , C Estrada-Meza , A Banerjee , S Pathak , LM Ruiz-Manriquez , AK Duttaroy , S Paul

Brief summary: This study summarises the involvement of specific miRNAs in diabetes mellitus, thyroid diseases, osteoporosis, pituitary tumours, Cushing’s disease, adrenal insufficiency and multiple endocrine neoplasia’s. Furthermore, the potential of miRNA as candidates for developing novel diagnostic and therapeutic tools is also discussed.Endocrine disorders are common worldwide and represent a considerable public health problem due to long ...

ey0021.1-9 | Novel Genes | ESPEYB21

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

J Martinez-Mayer , S Vishnopolska , C Perticarari , LI Garcia , M Hackbartt , M Martinez , J Zaiat , A Jacome-Alvarado , D Braslavsky , A Keselman , I Bergada , R Marino , P Ramirez , NP Garrido , M Ciaccio , Palma MI Di , A Belgorosky , MV Forclaz , G Benzrihen , S D'Amato , ML Cirigliano , M Miras , AP Nunez , L Castro , MS Mallea-Gil , C Ballarino , L Latorre-Villacorta , AC Casiello , C Hernandez , V Figueroa , G Alonso , A Morin , Z Guntsche , H Lee , E Lee , Y Song , MA Marti , MI Perez-Millan

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...