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

Abstract

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