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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. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. In the United States and many other countries, all newborns are tested for congenital hypothyroidism. If treatment begins in the first month after birth, infants usually develop normally. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family; however, this condition can also be inherited.Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (
Last updated: 10/19/2011
- Congenital hypothyroidism. Genetics Home Reference. May 2006; http://www.ghr.nlm.nih.gov/condition/congenital-hypothyroidism. Accessed 10/19/2011.
- Genetics Home Reference (GHR) contains information on Congenital hypothyroidism. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital hypothyroidism. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.