Congenital Hypothyroidism Information

Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. Hypothyroidism occurs in about 1 in 4000 newborns. It may be transient, especially if the mother has TSH-R blocking antibodies or has received antithyroid drugs, but permanent hypothyroidism occurs in the majority. It is estimated that hypothyroidism will occur in 1 of every 4,500 births, making it one of the most common metabolic disorders.

Neonatal hypothyroidism is due to thyroid gland dysgenesis in 80 to 85%, inborn errors of thyroid hormone synthesis in 10 to 15%, and is TSH-R antibody-mediated in 5% of affected newborns.

Symptoms of Congenital Hypothyroidism

Clinical signs of hypothyroidism often do not appear until the infants is 3-4 months of age. Most infants that are profoundly hypothyroid often have a distinctive appearance with a puffy-appearing face, a dull look, and a large tongue that protrudes from the mouth, which is usually kept open.

Causes of Congenital Hypothyroidism

• physical injury, including surgery (partial or hemithyroidectomies) and traumatic injuries;
• pharmacological blockade, such as with iodine, thyroid agents, lithium, or interferon.
• radiation-induced damage from treatment of hyperthyroidism

Treatment for hypothyroidism is by drug therapy.  An infant born with this condition will have to take the drug thyroxine throughout his/her lifetime.  Thyroxine is usually taken orally.