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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
 

Author(s): Monica Vincenzi, Marta Camilot, Eleonora Ferrarini, Francesca Teofoli, Giacomo Venturi, Rossella Gaudino, Paolo Cavarzere, Giuseppina De Marco, Patrizia Agretti, Antonio Dimida, Massimo Tonacchera, Attilio Boner, Franco Antoniazzi

Journal:

 

Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, ...

Last Updated: 27 Aug 2014

Go To URL
Epidemiology of congenital hypothyroidism in Markazi Province, Iran.
 

Author(s): Fatemeh Dorreh, Parsa Y Chaijan, Javad Javaheri, Ali Hossein Zeinalzadeh

Journal: J Clin Res Pediatr Endocrinol. 2014 ;6(2):105-10.

 

The aim of this study was to investigate the epidemiology of congenital hypothyroidism (CH) among newborns in Markazi Province, Iran.

Last Updated: 17 Jun 2014

Go To URL
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism.
 

Author(s): Ching Chin Lee, Fatimah Harun, Muhammad Yazid Jalaludin, Chor Yin Lim, Khoon Leong Ng, Sarni Mat Junit

Journal: Biomed Res Int. 2014 ;2014():370538.

 

The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was ...

Last Updated: 18 Apr 2014

Go To URL

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: 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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL
Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism
 

Status: Recruiting

Condition Summary: Congenital Hypothyroidism

 

Last Updated: 27 Feb 2015

Go to URL
The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
 

Status: Recruiting

Condition Summary: Congenital Hypothyroidism; Hearing Loss

 

Last Updated: 18 Oct 2010

Go to URL