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

Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10μIU/mL have congenital hypothyroidism.
 

Author(s): Flávia C Christensen-Adad, Carolina T Mendes-Dos-Santos, Maura M F Goto, Letícia E Sewaybricker, Lília F R D'Souza-Li, Gil Guerra-Junior, André M Morcillo, Sofia Helena V Lemos-Marini

Journal: J Pediatr (Rio J). ;93(6):649-654.

 

To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10μIU/mL in the neonatal screening.

Last Updated: 31 Dec 1969

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[Analysis of treatment efficacy for congenital hypothyroidism in some regions of Yunnan Province, China].
 

Author(s): Jing-Hui Yang, Jing-Hui Zhang, Yin-Hong Zhang, Xiao-Zhi Xu, Hong Chen, Yuan Li, Yan Jiang, Zheng Wang, Bao-Sheng Zhu, Li Li

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Jul;19(7):741-747.

 

To observe the effects of initial doses and treatment timing of levothyroxine (L-T4) on the clinical efficacy in children with congenital hypothyroidism (CH).

Last Updated: 31 Dec 1969

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Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
 

Author(s): Zehra Aycan, Hakan Cangul, Marina Muzza, Veysel N Bas, Laura Fugazzola, V Krishna Chatterjee, Luca Persani, Nadia Schoenmakers

Journal: J. Clin. Endocrinol. Metab.. 2017 Sep;102(9):3085-3090.

 

The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically ...

Last Updated: 31 Dec 1969

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

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?
 

Author(s): Samantha Lain, Caroline Trumpff, Scott D Grosse, Antonella Olivieri, Guy Van Vliet

Journal: Eur. J. Endocrinol.. 2017 Nov;177(5):D1-D12.

 

When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20-50 U/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.