Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1293 | Clinical Cases–Thyroid/Other | ECE2015

Multiple endocrine neoplasia type 2A in a Turkish family presented with nonspesific symptoms

Tuzun Dilek , Oguz Ayten , Sahin Murat , Kaleli Ilhami Taner , Bakaris Sevgi , Deniz Mustafa Saygin , Cabioglu Cansu Yilmaz , Gul Kamile

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), phaeochromocytoma, and primary parathyroid hyperplasia (PPH). In patients with only one or two clinical features, identification of a germline rearranged in transfection (RET) mutation or the identification of the clinical features of MEN2A in other first degree relatives is required to make the diagnosis. We present ...