SLC5A5 and congenital hypothyroidism: Here, using targeted next-generation sequencing, we investigated the presence of pathogenic variants in the SLC5A5 gene in a cohort of nine pediatric patients with dyshormonogenic congenital hypothyroidism, suspected of being due to an iodide transport defect based on the absence of 99mTc-pertechnetate accumulation in the thyroid gland.