Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism

• We screened iodide transporter and recycling genes in a larger cohort of 606 CH patients, the mutation rate of SLC26A4, SLC5A5, SLC26A7, and IYD is 1.98%, 0.82%, 0.66%, 0.17% respectively. • This is the first study focused on exploring the association between genotype and phenotype of iodine transporter and recycling gene defects. • A definite genetic diagnosis of CH is necessary to choose iodine supplementation as adjunct or alternative treatment when there is residual activity, and it is also helpful to avoid mental retardation caused by delayed diagnosis.