Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep1234 | Late Breaking | ECE2024

Patient with MEN1 gene deletion and the classic triad of MEN-1 components

Salimkhanov Rustam , Vishnyakova Victoria , Kim Ekaterina , Lavreniuk Anastasia , Eremkina Anna , Vizerov Timofei , Utkina Marina , Mokrysheva Natalia

Introduction: Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an autosomal dominant disorder caused by germline mutations in the MEN1 gene encoding menin. MEN1 mutations are mainly represented by deletions/insertions, nonsense, splice site or missense mutations and can be detected by DNA sequencing. MEN-1 generally includes parathyroid, adenohypophysis, and pancreatoduodenal neuroendocrine tumors.Clinical Case: Patient S., 26-ye...