Congenital hypothyroidism

Common Name(s)

Congenital hypothyroidism

Congenital hypothyroidism (CH) is a condition that affects the body's thyroid gland, a small organ in the lower neck. People with CH are unable to produce enough thyroid hormone, a chemical that is essential for healthy growth and development. Hormones send messages to cells throughout the body. Thyroid hormone helps control growth, brain development, and the breaking down of food for energy. CH occurs when the thyroid gland is not working properly. About 80 to 85 percent of CH cases are sporadic, meaning that CH was not passed on from parent to child. An affected individual cannot pass CH on to his or her children, and siblings are usually not at risk of having CH. About 15 percent of CH cases are considered to have a genetic cause.

Most babies with CH show signs at three to four weeks after birth. Early signs of CH include yellow skin or eyes (jaundice), sleeping longer or more often, constipation, weak muscle tone (hypotonia), swelling around the eyes, swollen tongue, cool pale skin, large belly with a navel that sticks out, a hoarse-sounding cry, and delayed growth and weight gain. If left untreated, CH can cause intellectual delays and learning delays. Many babies are screened for CH at birth so that treatment can begin early. However, the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. Talk with your doctor and genetic counselor to determine which treatment option is best for you. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Graves' Disease and Thyroid Foundation

The purpose and mission of the Graves' Disease & Thyroid Foundation is to provide support and educational services for patients and family members impacted by Graves' disease, thyroid eye disease, Hashimoto's thyroiditis, and other thyroid-related disorders. Services are delivered via phone/e-mail/U.S. Mail, social media, online forums, local support groups, and national educational events.

Last Updated: 15 Jun 2015

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The British Thyroid Foundation

To provide people with the highest standard of support and information based on the best current medical evidence and patient experiences, to work in partnership with medical professionals and patients in order to facilitate a better understanding of thyroid disorders, and to ensure all people have access to appropriate treatment and care.

Last Updated: 13 Jul 2015

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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: 18 Jun 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Graves' Disease and Thyroid Foundation

The purpose and mission of the Graves' Disease & Thyroid Foundation is to provide support and educational services for patients and family members impacted by Graves' disease, thyroid eye disease, Hashimoto's thyroiditis, and other thyroid-related disorders. Services are delivered via phone/e-mail/U.S. Mail, social media, online forums, local support groups, and national educational events.

http://www.gdatf.org

Last Updated: 15 Jun 2015

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The British Thyroid Foundation

To provide people with the highest standard of support and information based on the best current medical evidence and patient experiences, to work in partnership with medical professionals and patients in order to facilitate a better understanding of thyroid disorders, and to ensure all people have access to appropriate treatment and care.

http://www.btf-thyroid.org

Last Updated: 13 Jul 2015

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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: 18 Jun 2015

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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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Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.
 

Author(s): Chunyun Fu, Shaoke Chen, Rongyu Chen, Xin Fan, Jingsi Luo, Chuan Li, Jiale Qian

Journal: Arq Bras Endocrinol Metabol. 2014 Nov;58(8):828-32.

 

Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations ...

Last Updated: 3 Dec 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 15 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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Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?
 

Status: Recruiting

Condition Summary: Congenital Hypothyroidism; Pregnancy; Iodine Deficiency

 

Last Updated: 20 Jul 2007

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