Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect

SLC26A7 encodes an apical iodide transporter in thyroid follicular cells, and causes, when mutated, congenital hypothyroidism (CH). We report a patient diagnosed with goitrous CH, who initially presented with neck enlargement and inspiratory stridor on day 3 of life. Levothyroxine therapy resulted in prompt improvement in upper airway compression, and surgical interventions were avoided. The levothyroxine dosage per body weight was gradually reduced to 0.5 μg/kg/day by age 11 months. Genomic sequencing of CH-related genes identified compound heterozygous protein-truncating SLC26A7 variants: c.612_613dup, p.Ser207Tyrfs*31 and c.1498C>T, p.Gln500*. We emphasize the importance of considering genetic etiologies in cases of neonatal goiter with upper airway compression, particularly in the absence of exposure to excessive iodine or antithyroid drugs.