Congenital Hypothyroidism(Cretinism)
by
Dianne Scheinberg, MS, RD, LDN DefinitionThe thyroid is a gland in the lower neck. It makes hormones that regulate growth, brain development, and metabolism. Hypothyroidism is a low or absent production of these hormones. Congenital means the condition is present since birth.
If this condition is not treated it can cause damage to the brain. This can lead to intellectual disability and abnormal growth. Causes TOPIn most cases, the cause is unknown, but it is probably genetic. The most common known causes are abnormal development of the thyroid gland or a defect in producing thyroid hormone. About 15% of cases are inherited. Babies may have a temporary shortage in their thyroid hormones. This is more common in babies born before 40 weeks. Risk Factors TOPFactors that may increase the chance of congenital hypothyroidism include:
Symptoms TOPSymptoms or signs take time to develop. The symptoms of congenital hypothyroidism may include the following:
Diagnosis TOPAt 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:
Treatment TOPThe 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 can prevent damage. Left untreated, the condition will lead to poor mental development and delayed growth. Medication will treat the hypothyroidism. The medication will replace the missing hormone. Once medication starts, the levels of thyroid hormones are checked often. This will help to keep the values within a normal range. If values are kept within a normal range, there are no side effects or complications. Prevention TOPMost cases cannot be prevented. The following are some things the mother can do during pregnancy to reduce the risk:
RESOURCESAmerican Thyroid Association http://www.thyroid.org Genetics Home Reference http://ghr.nlm.nih.gov CANADIAN RESOURCESHealth Canada https://www.canada.ca Thyroid Foundation of Canada http://www.thyroid.ca ReferencesAmerican Academy of Pediatrics, Rose SR, Section on Endocrinology and Committee on Genetics, et al. Update of newborn screening and therapy for congenital hypothyroidism.
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Congenital hypothyroidism. EBSCO DynaMed Plus website. Available at:
http://www.dynamed...
. Updated March 24, 2016. Accessed November 28, 2017.
LeFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism.
J Pediatr Endocrinol Metab. 2007;20(5):559-578. Last reviewed November 2018 by
EBSCO Medical Review Board
James Cornell, MD Last Updated: 12/20/2014 |
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