Abstract:Thyroid dysfunction is common in newborn infants with Down's syndrome (DS) but defects in organogenesis have not been described. A female infant was diagnosed to have trisomy 21, atrio-ventricular septal defect and patent ductus. Newborn screening showed capillary TSH 43.8 mU/L(day 5), venous TSH >150 mU/l and free T4 15.1 pmol/L (day 12). Thyroid ultrasound showed a small gland with heterogenous echotexture and cystic changes. Scintigraphy showed normal uptake into an eutopic gland. The infant was treated wit… Show more
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