Genetic defects in thyroid hormone synthesis.

Details

Serval ID
serval:BIB_8502CBB1EEEA
Type
Article: article from journal or magazin.
Collection
Publications
Title
Genetic defects in thyroid hormone synthesis.
Journal
Current opinion in pediatrics
Author(s)
Gillam M.P., Kopp P.
ISSN
1040-8703 (Print)
ISSN-L
1040-8703
Publication state
Published
Issued date
08/2001
Peer-reviewed
Oui
Volume
13
Number
4
Pages
364-372
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Abstract
Thyroid hormone synthesis requires a normally developed thyroid gland, a properly functioning hypothalamic-pituitary-thyroid axis, and sufficient iodine intake. This article focuses on genetic defects in this axis. Defects that are primarily of developmental origin are discussed in our associated article in this issue. Defects in hormone synthesis usually are associated with the development of a goiter, provided that the bioactivity and action of thyrotropin (TSH) are not impaired. In contrast, hypoplasia of the gland may be caused by developmental defects, bioinactive TSH, or resistance to TSH at the level of the receptor or its signaling pathway. At the other end of the spectrum, hyperthyroidism may result from gain of function mutations in genes regulating growth and function.
Keywords
Congenital Hypothyroidism, Humans, Hyperthyroidism/congenital, Hyperthyroidism/genetics, Hypothyroidism/genetics, Thyroid Hormones/biosynthesis, Thyroid Hormones/genetics
Pubmed
Web of science
Create date
30/12/2020 14:59
Last modification date
31/12/2020 6:26
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