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.

http://www.magicfoundation.org

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

View Details

 

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

Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey.
 

Author(s): Dilek Dilli, Sema Çzbaş, Deniz Acıcan, Nergiz Yamak, Mustafa Ertek, Uğur Dilmen

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5(2):73-9.

 

To assess the Turkish National Newborn Screening Programme (NNSP) for congenital hypothyroidism (CH). Retrospective study based on the data from NNSP.

Last Updated: 10 Jun 2013

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[Evaluation of TSH cutoff value in blood-spot samples in neonatal screening for the diagnosis of congenital hypothyroidism in the Programa "Primeiros Passos" - IEDE/RJ].
 

Author(s): Bianca Barone, Clarisse Lourandes da Silva Lopes, Latife Salomão Tyszler, Valéria Borges do Amaral, Rosa Helena C Zarur, Valéria Neto Paiva, Denise Boechat Leite, Ricardo M R Meirelles

Journal: Arq Bras Endocrinol Metabol. 2013 Feb;57(1):57-61.

 

To analyze the confirmed or not-confirmed cases of neonatal screening (CH) screened in the Programa "Primeiros Passos", stratifying them into TSH blood-spot (TSH-BS) ranges.

Last Updated: 26 Feb 2013

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A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.
 

Author(s): Toshihiro Tajima, Akie Nakamura, Katsura Ishizu

Journal: Endocr. J.. 2013 ;60(2):245-9.

 

Congenital central hypothyroidism (C-CH) is a rare disease known to be caused by mutations of the genes encoding TSH β or the TRH receptor gene, although the cause of the disease in a number of patients has not yet been clarified. Recently, mutations and deletions of the immunoglobulin ...

Last Updated: 28 Feb 2013

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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:

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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Newborn screening for congenital hypothyroidism.
 

Author(s): Atilla Büyükgebiz

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5 Suppl 1():8-12.

 

Newborn screening (NS) for congenital hypothyroidism (CH) is one of the major achievements in preventive medicine. Most neonates born with CH have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked, and delayed diagnosis ...

Last Updated: 4 Mar 2013

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[Current situation of neonatal screening for congenital hypothyroidism: criticisms and perspectives].
 

Author(s): Marilza Leal Nascimento

Journal: Arq Bras Endocrinol Metabol. 2011 Nov;55(8):528-33.

 

Congenital hypothyroidism (CH) is one of the most common treatable causes of mental retardation. Efforts should be done in its early detection and treatment. Delays in diagnosis and treatment will result in impaired neurocognitive outcomes. Neonatal screening changed the natural history ...

Last Updated: 5 Jan 2012

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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: Not yet recruiting

Condition Summary: Congenital Hypothyroidism

 

Last Updated: 2 Aug 2013

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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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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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