Congenital goitre and respiratory distress as rare presenting features of congenital hypothyroidism in the newborns

In babies with congenital hypothyroidism, goiter and respiratory distress (due to upper airway compression/hypothyroidism) are rarely encountered as the first presenting signs. Computerized Tomography of neck revealed enlargement all thyroid gland lobes further laboratory hypothyroidism. Thyroid hormone replacement therapy was initiated early, which resulted in a significant reduction regression. With high TSH, low Tri-iodothyronin, no central line abnormality, maternal history drug/s use during pregnancy, familial Congenital Goitrous Primary Hypothyroidism is most likely diagnosis.