Linked Life Data

15858240

Source:http://linkedlifedata.com/resource/pubmed/id/15858240

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3 Pt 2
pubmed:dateCreated
2005-4-28
pubmed:abstractText
Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per 4800 in Poland. There are two main causes of congenital hypothyroidism: defects of thyroid development (about 90%), defects of thyroid hormones biosynthesis (~10%), and the more seldom occurring defects of the TBG proteins (thyroxine binding globulin) or resistance. syndrome to thyroid hormones. Defects of thyroid gland development include ectopia, hypoplasia or complete lack of the thyroid (athyreosis). These defects are caused by immunological, factors, drugs as well as genetic factors such as: TSH receptor gene or thyroid transcription factors: PAX 8. TTF l, TTF 2, Pit 1, Prop 1. Defects of thyroid hormones biosynthesis are inherited as autosomal recessive. There are 5 main defects of thyroid hormones biosynthesis: iodide transport (mutation of hNIS gene), iodine oxygenation (mutation of TPO, THOX, PDS genes), the iodination of the tyrosine of thyroglobulin and their conjunction (the mutation of TPO TG, PDS genes), the hydrolysis of the T3 and T4 as well as deiodination. Searching molecular-genetic basis of congenital hypothyroidism may improve its diagnostics, make possible to introduce genetic examination among patients with congenital hypothyroidism and their family members and may make gene therapy possible in the future.
pubmed:language
pol
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases, http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins, http://linkedlifedata.com/resource/pubmed/chemical/PAX8 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/POU1F1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Paired Box Transcription Factors, http://linkedlifedata.com/resource/pubmed/chemical/Prophet of Pit-1 protein, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Thyrotropin, http://linkedlifedata.com/resource/pubmed/chemical/TTF1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/TTF2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Thyroid Hormones, http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factor Pit-1, http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status
MEDLINE
pubmed:issn
1428-345X
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
678-89
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:articleTitle
[Molecular-genetic aspects of congenital hypothyroidism].
pubmed:affiliation
Katedra Endokrynologii, Przemiany Materii i Chorób Wewnetrznych, Akademia Medyczna im. K. Marcinkowskiego, Przybyszewskiego 49, 60-355 Pozna?, Poland. k_lacka@wp.pl
pubmed:publicationType
Journal Article, English Abstract, Review