Thyroid agenesis

Common Name(s)

Thyroid agenesis

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis ({27:Macchia et al., 1998}). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thyroid agenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Thyroid agenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Thyroid agenesis" returned 5 free, full-text research articles on human participants. First 3 results:

Solid ectopic cervical thymus in neonates with thyroid agenesis.
 

Author(s): Glenda McLean, Ami DeSilva, Philip Bergman, Christine Rodda, Justin Brown, Ian Jong, Dee Nandurkar

Journal: J Ultrasound Med. 2012 Aug;31(8):1281-3.

 

We report a series of ectopic thymus glands as detected by sonography in infants with thyroid agenesis. The patients were children who underwent nuclear medicine and sonography for congenital hypothyroidism. Of the 12 patients with a diagnosis of thyroid agenesis over a 5-year period, ...

Last Updated: 27 Jul 2012

Go To URL
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
 

Author(s): Mireille Castanet, Soo-Mi Park, Aaron Smith, Michel Bost, Juliane Léger, Stanislas Lyonnet, Anna Pelet, Paul Czernichow, Krishna Chatterjee, Michel Polak

Journal: Hum. Mol. Genet.. 2002 Aug;11(17):2051-9.

 

Thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH) and its genetic basis is largely unknown. Here, we describe the second homozygous missense mutation in TTF-2 (or FOXE1), a transcription factor that has been implicated in thyroid development. Two male siblings, ...

Last Updated: 7 Aug 2002

Go To URL
Unilateral renal agenesis in a family with medullary thyroid carcinoma.
 

Author(s): F Loré, G Di Cairano, F Talidis

Journal: N. Engl. J. Med.. 2000 Apr;342(16):1218-9.

 

Last Updated: 20 Apr 2000

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 "Thyroid agenesis" returned 0 free, full-text review articles on human participants.

 
 
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: 28 Apr 2014

Go to URL