Endocrine Abstracts

Introduction: Thyroid storm, a life-threatening endocrine emergency, requires prompt intervention and treatment to improve outcomes. The diagnosis is made clinically, based on symptoms including hyperpyrexia, tachycardia, nausea, diarrhoea and altered cognition. The Burch-Wartofsky (BW) score is a symptom-based score recommended to determine the likelihood of thyroid storm. This retrospective study aims to determine use of the BW scale and its effect on management.<p class...

Background: Advances in next-generation sequencing facilitate the simultaneous evaluation of large numbers of cancer predisposition genes (CPGs) in patients with cancer irrespective of family history or tumour phenotype. Several studies have reported the frequent occurrence of germline mutations in CPGs in patients with discordant cancer types raising the possibility of novel gene-cancer associations. The current study aimed to evaluate the significance of germline mutations i...

Background: Identifying individuals harbouring germline mutations in hereditary cancer genes provides opportunities for tumour surveillance programs, disease-specific treatment and cascade testing in family members but is reliant on accurate variant interpretation, which may be confounded by imprecise methods for ascribing pathogenicity. Where insufficient evidence supports a definitive classification, ‘variant of uncertain significance’ (VUS) status is applied, whic...