SLC5A5 and hypothyroidism: Here, using whole-exome sequencing, we identify a novel pair of compound heterozygous missense SLC5A5 gene variants—p.G543R and p.L562M—in a proposita with congenital dyshormonogenic hypothyroidism characterized by undetectable radioiodide accumulation in a eutopic thyroid gland, as well as in the salivary glands, suggestive of an iodide transport defect phenotype.