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 256 free, full-text research articles on human participants. First 3 results:

Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.
 

Author(s): David S Saleh, Sarah Lawrence, Michael T Geraghty, Patricia H Gallego, Karen McAssey, Diane K Wherrett, Pranesh Chakraborty

Journal:

 

In thyroid-stimulating-hormone (TSH)-based newborn congenital hypothyroidism (CH) screening programs, the optimal screening-TSH cutoff level is critical to ensuring that true cases of CH are not missed. Screening-TSH results can also be used to predict the likelihood of CH and guide ...

Last Updated: 3 Feb 2016

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The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
 

Author(s): Hakan Cangül, Korcan Demir, H Ömür Babayiğit, Ayhan Abacı, Ece Böber

Journal: J Clin Res Pediatr Endocrinol. 2015 Sep;7(3):238-41.

 

Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the ...

Last Updated: 2 Feb 2016

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A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
 

Author(s): Hakan Cangül, Murat Doğan, Duran Üstek

Journal: J Clin Res Pediatr Endocrinol. 2015 Dec;7(4):323-8.

 

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine the genetic basis of CH in two affected children coming from a consanguineous family.

Last Updated: 18 Jan 2016

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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 18 free, full-text review articles on human participants. First 3 results:

Recent advances in central congenital hypothyroidism.
 

Author(s): Nadia Schoenmakers, Kyriaki S Alatzoglou, V Krishna Chatterjee, Mehul T Dattani

Journal: J. Endocrinol.. 2015 Dec;227(3):R51-71.

 

Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to ...

Last Updated: 3 Nov 2015

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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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[Clinical and ultrasound features of congenital hypothyroidism].
 

Author(s): Karla Moënne B, Ximena Ortega E, Manuela Pérez M, Verónica Mericq G

Journal: Rev Chil Pediatr. 2014 Feb;85(1):98-105.

 

Congenital hypothyroidism is a condition where a newborn has decreased or absent thyroid function and thyroid hormone production. It is the most common cause of preventable mental retardation and its early diagnosis can only be achieved through systematic neonatal screening because ...

Last Updated: 1 Aug 2014

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication
 

Status: Recruiting

Condition Summary: Autoimmune Thyroid Disease; Congenital Hypothyroidism

 

Last Updated: 5 Apr 2016

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Treatment Trial of Subclinical Hypothyroidism in Down Syndrome
 

Status: Recruiting

Condition Summary: Down Syndrome; Subclinical Hypothyroidism

 

Last Updated: 10 Nov 2016

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