Congenital Hypothyroidism

Common Name(s)

Congenital Hypothyroidism

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. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Hypothyroidism" for support, advocacy or research.

The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 7 Nov 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Hypothyroidism" for support, advocacy or research.

The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 7 Nov 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Hypothyroidism" returned 224 free, full-text research articles on human participants. First 3 results:

[Analysis of neonatal screening results for congenital hypothyroidism in parts of Yunnan Province, China].
 

Author(s): Yin-Hong Zhang, Li Li, Hong Chen, Shu Zhu, Jie Zhang, Su-Yun Li, Rui-Hong Wang, Bao-Sheng Zhu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jan;17(1):45-8.

 

To summarize and analyze neonatal screening results for congenital hypothyroidism (CH) in parts of Yunnan Province, China.

Last Updated: 24 Jan 2015

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[DUOX2 mutations in children with congenital hypothyroidism].
 

Author(s): Jian Chai, Xiao-Long Yang, Ming-Zhen Guo, Lu Liu, Shi-Guo Liu, Sheng-Li Yan, Yin-Lin Ge

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jan;17(1):40-4.

 

To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH.

Last Updated: 24 Jan 2015

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Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
 

Author(s): Vignesh Gopalakrishnan, Kriti Joshi, Shubha Phadke, Preeti Dabadghao, Meenal Agarwal, Vinita Das, Suruchi Jain, Sanjay Gambhir, Bhaskar Gupta, Amita Pandey, Deepa Kapoor, Mala Kumar, Vijayalakshmi Bhatia

Journal: Indian Pediatr. 2014 Sep;51(9):701-5.

 

To assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the City of Lucknow in Uttar Pradesh, India.

Last Updated: 17 Sep 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Hypothyroidism" returned 16 free, full-text review articles on human participants. First 3 results:

Congenital hypothyroidism: a clinical update of long-term outcome in young adults.
 

Author(s): Juliane Léger

Journal: Eur. J. Endocrinol.. 2015 Feb;172(2):R67-77.

 

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The early treatment of CH patients has successfully improved the prognosis and management of this disorder. Optimal treatment and management throughout the patient's life, beginning in the neonatal period, ...

Last Updated: 31 Dec 2014

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Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.
 

Author(s): Léa Maria Zanini Maciel, Edna Teruko Kimura, Célia Regina Nogueira, Glaucia M F S Mazeto, Patrícia Künzle Ribeiro Magalhães, Marilza Leal Nascimento, Suzana Nesi-França, Sandra E Vieira,

Journal: Arq Bras Endocrinol Metabol. 2013 Apr;57(3):184-92.

 

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment ...

Last Updated: 17 May 2013

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Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management.
 

Author(s): Malcolm Donaldson, Jeremy Jones

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5 Suppl 1():13-22.

 

Congenital hypothyroidism (CH), usually of the primary and permanent variety, is an eminently preventable cause of growth retardation and mental handicap whose outlook has been transformed by newborn screening, usually involving the measurement of capillary thyroid stimulating hormone ...

Last Updated: 4 Mar 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
 

Status: Recruiting

Condition Summary: Congenital Hypothyroidism

 

Last Updated: 6 Nov 2014

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Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism
 

Status: Recruiting

Condition Summary: Congenital Hypothyroidism

 

Last Updated: 17 Mar 2015

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The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
 

Status: Recruiting

Condition Summary: Congenital Hypothyroidism; Hearing Loss

 

Last Updated: 18 Oct 2010

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