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Newborn Screening Program

Congenital Hypothyroidism

What is Congenital Hypothyroidism?

A baby born with congenital hypothyroidism cannot produce enough of the thyroid hormone essential to physical growth and mental development. Unless detected and treated early, hypothyroidism can result in delayed development and mental retardation. Nearly one of every 4,000 newborn babies has hypothyroidism.

What Causes it?

The thyroid hormone is produced by the thyroid gland, located in the neck. A few babies, however, are born without thyroid glands. A few others are born with the thyroid gland in the wrong place (for example, near the base of the tongue). In still others, the thyroid gland is in the right place, but simply doesn't function properly.

Normally, the correct amount of the hormone is produced when the pituitary gland, located in the brain, releases a thyroid-stimulating hormone (TSH), which causes the thyroid gland to become active. In rare instances, the thyroid gland is normal, but the pituitary gland doesn't function properly, and can't produce enough TSH to stimulate the thyroid gland to work.

How is Hypothyroidism Determined?

Shortly after birth, several drops of blood are taken from a baby's heel. A dried blood sample is sent to a State Health Department Laboratory where it is tested for hypothyroidism and several other conditions. These tests are all part of the State's Newborn Screening Program.

In the event that a baby's thyroid test results are not normal, the baby's doctor is notified. The doctor may handle the case, or refer the parents to a pediatric endocrinologist at a State Congenital Hypothyroidism Treatment Center. In either case, a complete medical history and physical examination of the baby are done. In the examination, the doctor looks for such symptoms as: poor appetite; extreme sleepiness and inactivity; rough, dry skin; prolonged jaundice (yellowish skin); constipation; umbilical hernia; or facial swelling. Another blood sample will also be taken for additional testing.

A special test, known as a thyroid uptake-and-scan test, may be used to determine whether the baby has a thyroid gland, and where it is located. If the thyroid gland is normal, a test to check the pituitary gland is done.Since thyroid hormone is essential for normal bone growth, an X-ray of the baby's knee may also be taken. With the X-ray, the doctor can tell if the growth of the bones has been normal, or if it has been delayed. This information helps the doctor to anticipate any future problems.

How is it treated?

Hypothyroidism is treated with medication, in tablet form, as prescribed by the doctor. For newborns, the tablet may be crushed, mixed with a liquid and given to the baby with a medicine dropper. Once the child starts eating solid foods, the medication may be mixed with fruit or cereal, on a spoon. This simple, daily feeding provides all the hormone needed for the baby's growth and development.

Is there a cure?

In most cases, the child will never be able to produce sufficient thyroid hormone. In this sense, hypothyroidism is permanent and treatment must be continued throughout life.Frequent medical check-ups are essential to ensure that the child continues to receive enough thyroid hormone for normal growth and development.

To Learn more...

For more information on congenital hypothyroidism, or the New York State Newborn Screening Program, write:
Newborn Screening Program
Wadsworth Center
NYS Health Department
Empire State Plaza
Albany, NY 12201