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ea0084op-01-04 | Oral Session 1: Topic Highlights | ETA2022

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Schoenmakers Erik , Marelli Federica , Jorgensen Helle , Edward Visser W. , Moran Carla , Groeneweg Stefan , Avalos Carolina , Figg Nichola , Finigan Alison , Wali Neha , Agostini Maura , Wardle-Jones Hannah , Lyons Greta , Rusk Rosemary , Gopalan Deepa , Johannes Visser Jacob , Goddard Martin , Nashef Samer , Heijmen Robin , Clift Paul , Sinha Sanjay , Busch-Nentwich Elisabeth , Ramirez-Solis Ramiro , Persani Luca , Bennett Martin , Chatterjee Krishna

Objectives: Mutations in SECISBP2 cause deficiency of selenoproteins, resulting in a multisystem disorder with abnormal circulating thyroid hormone and selenium levels and features due to lack of specific selenoproteins or loss of antioxidant selenoenzymes. Having observed early-onset, aneurysmal thoracic aortic dilatation in four patients with this disorder, we studied zebrafish and murine Secisbp2 mutant models to determine whether the aortic phenotype and selenopro...

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ea0039ep108 | Pituitary and growth | BSPED2015

Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

Raman Nambisan Aparna Kesavath , Michaelidou Maria , Dimitrakopoulou Eftychia , Ederies Ash , Spoudeas Helen , Clayton Peter , Banerjee Indi , Visser Johannes , Blair Jo , Gevers Evelien , Dattani Mehul , Aquilina Kristian , Pettorini Benedetta , Albanese Assunta , Kamaly Ian , Korbonits Marta , Michalski Antony , Hargrave Darren , Pizer Barry , Chang Yen

Objectives: In 2010 we piloted a national multidisciplinary (MDT), meeting virtually to improve management of rare suprasellar (HPAT) tumours. In 2014 we reported centralised treatment decision-making in craniopharyngioma and now wished to examine whether centre based management of idiopathic thickening of the pituitary stalk (iTPS) differs and can be streamlined by wider debate. This might also inform current commissioned BSPED and CCLG guidance.Methods...

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Endocrine Abstracts

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

BiosciAbstracts