Neonatal compressive goiter as the initial presentation of thyroid hormone resistance with dual THRB and TSHR mutations.
Abstract Resistance to thyroid hormones (RTH) is a rare disorder mostly caused by mutations in the thyroid hormone receptor β gene (THRB). It typically presents in late childhood or adulthood with elevated free thyroid hormone levels, inappropriately normal or high thyroid-stimulating hormone (TSH), and goiter. We report a case of RTH associated with a compressive neonatal goiter. A preterm newborn presented with respiratory distress due to a large goiter (9.7 mL; normal, <1.53 mL) requiring me...