Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.

Details

Serval ID
serval:BIB_02696B1E2401
Type
Article: article from journal or magazin.
Collection
Publications
Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Journal
Arquivos brasileiros de endocrinologia e metabologia
Author(s)
Vono-Toniolo J., Kopp P.
ISSN
0004-2730 (Print)
ISSN-L
0004-2730
Publication state
Published
Issued date
02/2004
Peer-reviewed
Oui
Volume
48
Number
1
Pages
70-82
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. ; Review
Publication Status: ppublish
Abstract
Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyroid hypoplasia. Thyroid dysgenesis is usually sporadic; in only 2% it occurs in a familial fashion. It can be caused by mutations in transcription factors that are essential for the development and function of thyroid follicular cells. Thyroid hypoplasia can also result from resistance to TSH at the level of the thyrocytes. Defects in the steps required for thyroid hormone synthesis within thyroid follicular cells are referred to as dyshormonogenesis and account for about 10-15% of congenital hypothyroidism. In contrast to thyroid dysgenesis, affected patients typically present with goitrous enlargement of the thyroid. The defects leading to dyshormonogenesis typically display a recessive mode of inheritance. Careful clinical, biochemical and molecular analyses of patients with syndromic and non-syndromic forms of thyroid dysgenesis and dyshormonogenesis have significantly enhanced our understanding of the wide spectrum of pathogenetic mechanisms underlying congenital hypothyroidism and provide unique insights into the (patho)physiology of thyroid development and hormone synthesis.
Keywords
Animals, Congenital Hypothyroidism, Humans, Hypothyroidism/genetics, Mutation, Thyroglobulin/genetics, Thyroid Hormones/genetics
Pubmed
Open Access
Yes
Create date
30/12/2020 14:38
Last modification date
31/12/2020 6:26
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