Searchable abstracts of presentations at key conferences in endocrinology

ea0092ps3-30-08 | Thyroid Physiology in Periphery & Development Basic | ETA2023

Identification of FOXE1 promoter variants in families with cleft palate, struma ovarii and thyroid lesions

Pires Carolina , Saramago Ana , M. Moura Margarida , Li Jing , Marques Ines , Cabrera Rafael , Machado Ana , Grunewald Thomas , Leite Valeriano , Cavaco Branca

Introduction: Forkhead box E1 (FOXE1) gene encodes a transcription factor crucial for thyroid morphogenesis, differentiation, and function. We previously found evidence of the involvement of a rare germline FOXE1 variant in familial non-medullary thyroid carcinoma (FNMTC) etiology. FNMTC most common subtype is papillary thyroid carcinoma (PTC), and family members frequently present thyroid follicular nodular disease (FND). Germline FOXE1 mu...