ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This cohort study identified genetic variants associated with thyroid dyshormonogenesis as a cause of congenital hypothyroidism in Southern Taiwan. It reviewed 876 CH patients diagnosed between 2011 and 2022 and examined the genetic etiology in 47 cases of TDH using whole-exome sequencing (WES).The etiology of congenital hypothyroidism (CH) can be attributed to either thyroid dysgenesis (TD) or thyroid dyshormonogenesis (TDH) with TD usual...