Searchable abstracts of presentations at key conferences in endocrinology

ea0063p1 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

A novel heterozygous mutation in exon 3 of VHL gene leading to Von Hippel-Lindau disease in a Turkish family

Yildirim Ozge Tasgin , Yildiz Ismail , Horozoglu Fatih , Gonen Aysun , Yazici Cenk Murat , Elbuken Gulsah , Zuhur Sayid

Background: Von Hippel-Lindau disease (VHL) is an autosomal dominant disease, characterized by haemangioblastomas of the retina and CNS, renal cell carcinomas (RCC) and renal cysts, pheochromocytomas, pancreatic neuroendocrine tumors and cysts, and endolymphatic sac tumors. VHL is associated with a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. The type-1 disease is caused by mutations, leading to severe disruption of protein acti...

ea0063p343 | Thyroid 1 | ECE2019

Clinical evaluation of TSH-receptor antibody measured by a third generation fully automated electrochemiluminescence immunoassay method in Turkish patients with Graves’ disease

Yildirim Ozge Tasgin , Elbuken Gulsah , Topcu Birol , Yildiz Ismail , Zuhur Sayid

Objective: Despite the high sensitivity of TRAb measured by modern assay methods, some patients with Graves’ disease (GD) may still have normal TRAb levels. Therefore, the purpose of this study was to determine the clinical utility of TRAb measured by a third generation assay method, and to determine it’s relationship with clinical and laboratory parameters in Turkish patients with GD.Methods: In this study, 328 consecutive treatment-naive pati...