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

Détails

ID Serval
serval:BIB_02696B1E2401
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Périodique
Arquivos brasileiros de endocrinologia e metabologia
Auteur⸱e⸱s
Vono-Toniolo J., Kopp P.
ISSN
0004-2730 (Print)
ISSN-L
0004-2730
Statut éditorial
Publié
Date de publication
02/2004
Peer-reviewed
Oui
Volume
48
Numéro
1
Pages
70-82
Langue
anglais
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
Résumé
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.
Mots-clé
Animals, Congenital Hypothyroidism, Humans, Hypothyroidism/genetics, Mutation, Thyroglobulin/genetics, Thyroid Hormones/genetics
Pubmed
Open Access
Oui
Création de la notice
30/12/2020 15:38
Dernière modification de la notice
31/12/2020 7:26
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