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Congenital hypothyroidism describes a newborn with decreased (or, very rarely, absent) thyroid hormone production.
Causes, incidence, and risk factors
Hypothyroidism in the newborn may result from absence of or abnormal development of the thyroid gland, destruction of the thyroid gland, failure of stimulation of the thyroid by the pituitary, and/or by defective or abnormal synthesis of thyroid hormones.
Incomplete development of the thyroid is the most common defect and occurs at a rate of 1 out of every 3,000 births. Girls are twice as often affected than boys.
They usually develop this appearance as the disease progresses. They may have dry, brittle hair; low hairline; and jaundice . Feeding is poor and the infant may choke frequently. Constipation is common. Affected children do not cry much, but sleep excessively and are sluggish and inactive. Muscle tone is usually decreased.
The appearance of teeth may be delayed. These problems become more severe as the child ages. Growth failure in terms of body length is noted very early.
Signs and tests
TreatmentEarly diagnosis is imperative. Most of the effects of hypothyroidism are easily reversible. However, critical development of the nervous system takes place in the first few months after birth. Thyroid hormone deficiency may result in irreversible damage to the nervous system with marked mental retardation.
Replacement therapy with thyroxine is the standard approach to treatment of hypothyroidism. Once medication starts, the blood levels of TSH and free T4 are monitored to keep the values within a normal range.
Expectations (prognosis)Very early diagnosis generally results in a good outcome for the infant, in terms of growth and mental capability. Newborns diagnosed and treated in the first month to month and a half generally develop normal intelligence. Absence of thyroid hormone during early life gives a poor outlook in terms of mental development.
Calling your health care providerCall your health care provider if you feel your child shows signs or symptoms of hypothyroidism, if you are pregnant and are exposed to antithyroid drugs or procedures, or have signs and symptoms of hypothyroidism.
PreventionAbsence of the thyroid and defective thyroxine production are not preventable. Destruction of the thyroid in the fetus may occur if the mother is treated with radioactive iodine for thyroid cancer while she is pregnant. Infants of mothers taking antithyroid medications should be observed carefully after birth for evidence of drug induced transient (brief) hypothyroidism.
Most states mandate a routing screening test on all newborns to detect hypothyroidism.
Update Date: 1/20/2004John Goldenring, M.D., M.P.H., Department of Pediatrics, Children's Hospital, San Diego, CA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT