The thyroid is a gland in the lower neck. It makes hormones that regulate growth, brain development, and metabolism.
is a low or absent production of these hormones. Congenital means the conditions is present since birth.
The Thyroid Gland
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If this condition is not treated it can cause damage to the brain. This can lead to
and abnormal growth.
In most cases, the cause is unknown. The most common known cause is abnormal development of the thyroid gland. A small percentage of cases are inherited.
Babies born before 40 weeks may have a temporary shortage in the thyroid hormones.
Factors that may increase the risk of congenital hypothyroidism include: Medication during pregnancy, such as radioactive iodine therapyMaternal autoimmune diseaseToo much iodine during pregnancyInborn error of metabolism
Symptoms or signs take time to develop. The symptoms of Congenital hypothyroidism may include the following: Puffy faceCoarse facial featuresDull lookThick protruding tonguePoor feedingChoking episodesConstipation
or reduced stooling
Jaundice prolongedShort statureSwollen, protuberant belly buttonDecreased activitySleeps a lotRarely cries or hoarse cryDry brittle hair; low hairlinePoor muscle toneCool and pale skinGoiter (enlarged thyroid)Birth defects (eg, heart valve abnormality)Poor weight gain due to poor appetitePoor growthDifficult breathingSlow pulseLow temperatureSwollen hands, feet and genitals
At birth, most infants are screened for this condition. Blood tests will be able to identify thyroid levels. Images of the thyroid may also be taken with: Thyroid scan (technetium)Nuclear imaging (scintigraphy) may help determine the cause of congenital hypothyroidism, which can guide treatment and prognosis
The outcome is best if the condition is caught early. It is important to start treatment before the brain and nervous system are fully developed. If treatment is given early, it could prevent damage. Left untreated, the condition can lead to poor mental development and delayed growth.
Medication will treat the hypothyroidism. The medication will replace the missing hormones.
Once medication starts, the levels of thyroid hormones are checked often. This will help to keep the values within normal range. If values are kept within a normal range, there are no side effects or complications.
Most cases can not be prevented. The following are some things the mother can do during pregnancy to reduce the risk: Avoid radioactive iodine treatment or iodine as antiseptic during pregnancyConsume enough, but not too much iodine during pregnancy
Bongers-Schokking JJ, Koot HM, Wiersma D. Influence of timing and dose of thyroid hormone replacement on the development in infants with congenital hypothyroidism.
Castanet M, Polak M, Leger J. Familial forms of thyroid dysgenesis.
Gruters A, Krude H, Biebermann H. Molecular genetic defects in congenital hypothyroidism.
Europ J Endocr
LeFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism.
J Pediatr Endocrinol Metab
Update of newborn screening and therapy for congenital hypothyroidism. American Academy of Pediatrics.
Last reviewed March 2013 by Kim Carmichael, MD
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