hrp0094p1-194 | Thyroid B | ESPE2021

Role of Next Generation Sequencing in the etiological diagnosis of congenital hypothyroidism with gland in situ

Di Natale Valeria , Ortolano Rita , Menabo Soara , Bettocchi Ilaria , Marzatico Alice , Scozzarella Andrea , Ferrari Simona , Pession Andrea , Cassio Alessandra ,

The pathogenetic role of genetic factors in congenital hypothyroidism (CH) is now widely known. The constant evolution of diagnostic methods in the field of medical genetics provides the opportunity to obtain an etiological diagnosis in CH patients with genetic defects in candidate genes. We performed genetic analysis by Next Generation Sequencing (NGS) of 18 candidate genes (DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA,...