Searchable abstracts of presentations at key conferences in endocrinology

ea0038p46 | Clinical practice/governance and case reports | SFEBES2015

Review in specialist Turner clinic improves management

Packer Caroline , Jones Christopher , Clift Paul , Toogood Andrew

Background: Turner syndrome (TS) is associated with significant morbidity and a reduction in life expectancy. National guidelines have been developed to support the management of adult patients with TS but little is known about their implementation. We therefore sought to compare the management of patients with TS seen within a single tertiary referral centre by endocrinology, either general-purpose or Turner-specific clinics (TSC), or by other specialties.<p class="abstex...

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...