Congenital Hypothyroidism
The deficiency of thyroid hormones in the neonate has been known since antiquity. Most cases prior to the 20th century were caused by iodine deficiency. Though still a prevalent nutritional disease worldwide, iodine deficiency rarely causes congenital hypothyroidism (CH) in western countries.
In greater than 95% of newborn infants with CH, there are no symptoms or signs of CH when the diagnosis is suspected by newborn screening. During the first 2 to 6 months of life, an affected, untreated infant with moderate to severe hypothyroidism may have persistent hyperbilirubinemia, edema, an umbilical hernia, enlarged fontanelles, and an absent, hypoplastic, normal or enlarged thyroid gland; then gradually develops lethargy, poor feeding, macroglossia, hypothermia, constipation, dry and sallow skin, hoarse cry, circumoral pallor, and mottling of the skin.
Treatment of hypothyroidism is relatively uncomplicated. As soon as tests to confirm the diagnosis of CH are obtained, levothyroxine (L-thyroxine) should be started promptly. Central CH may require additional management based on associated findings. Evaluation and monitoring should be performed in conjunction with a pediatric endocrine specialist.