When untreated, infants develop symptoms of congenital hypothyroidism including intellectual disability, lethargy, hoarse cry, poor feeding, constipation, myxedema facies, macroglossia, umbilical hernia, large fontanelles, and prolonged jaundice.
Causes of congenital hypothyroidism include thyroid dysgenesis (most common in the United States), thyroid agenesis, iodine deficiency, or dyshormonogenetic goiter.
Congenital hypothyroidism is one of the most common preventable causes of intellectual disability. As
such, newborn screening for thyroid deficiency was initiated in the 1970s.
Related topic: Hypothyroidism
E03.1 – Congenital hypothyroidism without goiter
190268003 – Congenital Hypothyroidism
Differential Diagnosis & Pitfalls