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Congenital Hypothyroidism

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by Scheinberg D

(Cretinism)

 

Definition

The 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 conditions is present since birth.
The Thyroid Gland
IMAGE
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If this condition is not treated it can cause damage to the brain. This can lead to intellectual disability and abnormal growth.
 

Symptoms

Symptoms or signs take time to develop. The symptoms of congenital hypothyroidism may include the following:
 

RESOURCES

Genetics Home Reference
http://ghr.nlm.nih.gov

American Medical Association
http://www.ama-assn.org

American Thyroid Association
http://www.thyroid.org

 

CANADIAN RESOURCES

Health Canada
http://www.hc-sc.gc.ca

Thyroid Foundation of Canada
http://www.thyroid.ca

 

References


Bongers-Schokking JJ, Koot HM, et al. Influence of timing and dose of thyroid hormone replacement on the development in infants with congenital hypothyroidism. J Ped. 2000;136:292-297.


Castanet M, Polak M, et al. Familial forms of thyroid dysgenesis. Endocr Dev. 2007;10:15-28.


Congenital hypothyroidism. EBSCO DynaMed website. Available at: http://dynamed.ebscohost.com/about/about-us. Updated February 3, 2012. Accessed December 31, 2012.


Gruters A, Krude H, Biebermann H. Molecular genetic defects in congenital hypothyroidism. Europ J Endocr. 2004;151:39-44.


LeFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism. J Pediatr Endocrinol Metab. 2007;20:559-578.


Thyroid Foundation of America. Congenital hypothyroidism. Thyroid Foundation of America website. Available at: http://www.tsh.org/disorders/pregnancy/newborns.html. Accessed December 31, 2012.


Update of newborn screening and therapy for congenital hypothyroidism. American Academy of Pediatrics. Pediatrics. 2006;117:2290-2303.

 

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