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Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.
Source: GARD Last updated on 05-01-20
Normally, if a baby's newborn screening result for congenital hypothyroidism is out of the normal range, the baby's doctor will contact the parent to arrange for the baby to have additional testing. An out of range screening result does not necessarily mean that a baby has the condition. The out of range result may happen because the initial blood sample was too small or the test was performed too early. Therefore, it is very important to go to a follow-up appointment for a confirmatory test. Follow up testing must be completed as soon as possible to determine whether or not a baby has the condition in order to begin appropriate treatment.
Last updated on 05-01-20
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