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Alternative NamesCretinism; Congenital hypothyroidism; Hypothyroidism - infants
Definition Return to top
Neonatal hypothyroidism is decreased thyroid hormone production in a newborn. In very rare cases, no thyroid hormone is produced.
If the baby was born with the condition, it is called congenital hypothyroidism. If it develops soon after birth, it is referred to as hypothyroidism acquired in the newborn period.
Causes Return to top
Hypothyroidism in the newborn may be caused by:
Incomplete development of the thyroid is the most common defect and occurs in about 1 out of every 3,000 births. Girls are affected twice as often than boys.
Symptoms Return to top
Most affected infants have few or no symptoms, because they only have a mild decrease in thyroid hormone production. However, infants with severe hypothyroidism often have a distinctive appearance. Symptoms may include:
This appearance usually develops as the disease gets worse. The child may also have:
Exams and Tests Return to top
A physical exam may reveal:
Blood tests will be done to check thyroid function. Other tests that may be done include:
Treatment Return to top
Early diagnosis is very important. Most of the effects of hypothyroidism are easily reversible.
Replacement therapy with thyroxine is the standard treatment of hypothyroidism. Once medication starts, thyroid blood tests are regularly done to make sure levels are within a normal range.
Outlook (Prognosis) Return to top
Very early diagnosis generally results in a good outcome. Newborns diagnosed and treated in the first month or so generally develop normal intelligence.
Untreated, mild hypothyroidism can lead to severe mental retardation and growth retardation. Critical development of the nervous system takes place in the first few months after birth. Thyroid hormone deficiency may cause irreversible damage.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if:
Prevention Return to top
If a pregnant women takes radioactive iodine for thyroid cancer, the thyroid gland may be destroyed in the developing fetus. Infants whose mothers have taken such medicines should be observed carefully after birth for signs of hypothyroidism.
Most states require a routine screening test to check all newborns for hypothyroidism. See also: Newborn screening tests
References Return to top
Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab. 2007; 91(3):268-277.Update Date: 8/15/2007 Updated by: Alan Greene, MD, FAAP, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital; Chief Medical Officer, A.D.A.M., Inc. Previously reviewed by Robert Hurd, MD, Professor of Endocrinology, Department of Biology, Xavier University, Cincinnati, OH, and physician in the Primary Care Clinic, Cincinnati Veterans Administration Medical Center, Cincinnati, Ohio. Review provided by VeriMed Healthcare Network. (7/17/2007)