Here, we explored the presence of pathogenic SLC5A5 gene variants in a cohort of five unrelated pediatric patients with dyshormonogenic congenital hypothyroidism suspected of having a congenital iodide transport defect based on reduced to non-detected 99mTc-pertechnetate accumulation in an eutopic thyroid gland. This evidence concerns the gene SLC5A5 and congenital hypothyroidism.