Can You Be Born With a Thyroid Problem?

In the United States, all newborns are tested for a range of diseases and defects, and thyroid functional testing is no exception. Because the thyroid gland plays such an important role in an infant's physical and mental development, early detection for hypothyroidism is vital. Without drug therapy intervention, babies would fail to thrive and would be at high risk for developing mental retardation.

Screening

• Neonatal screening is accomplished via heel stick, usually during the first three days of life. The blood is tested for T4 with a confirming TSH test, to check for the degree of thyroid function.

Signs and Symptoms

• Signs and symptoms that require urgent care include puffy face and body, thick tongue and general dull appearance. Hoarse cry, abnormally large fontanelles, short arms, legs and fingers, broad hands and poor muscle tone are additional signs that may appear later and should not be overlooked.

Incidence of Hypothyroidism

• In the U.S., an estimated 1:3,500 ratio exists for congenital hypothyroidism. About 40 percent of these babies have incomplete or absent thyroid glands, about 40 percent have anatomical anomalies such as thyroid glands at the base of the tongue or on the neck, and the remaining 20 percent lack functional thyroids due to genetic factors.

Treatment

• Hypothyroidism is readily treated with replacement hormone therapy, and prognosis is generally favorable when symptoms are detected early. Drug therapy usually means a lifetime commitment.

Prevention

• In the U.S., as around the world, iodine deficiency in pregnant women is a major contributing factor of congenital hypothyroidism. Increasing iodine to normal levels in these women's diets can help to resolve this issue.