Endocrine Abstracts

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...

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...