Linked Life Data

14604307

Source:http://linkedlifedata.com/resource/pubmed/id/14604307

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2003-11-7
pubmed:abstractText
Resistance to thyroid stimulating hormone (TSH) is a syndrome of reduced sensitivity to a biologically active TSH molecule. Subjects have elevated TSH levels but no goiter. However, thyroid hormone concentration may vary from normal to very high, depending on the severity of the resistance. Individuals with very high TSH, low thyroxine (T4) and hypoplastic thyroid glands can be mistakenly diagnosed as having primary hypothyroidism due a defective development of the thyroid gland. Those with normal or slightly decreased T4 can be misdiagnosed as having central hypothyroidism especially if their serum TSH concentration is only slightly elevated. Mutations in the TSH receptor (TSHr) gene have been reported in fifteen families with homozygous recessive or compound heterozygous inheritance. The mutant TSHrs show reduced or no function due to either altered ligand binding or defect in membrane targeting. Some individuals, heretozygous for a TSHr gene mutation can present mild resistance to TSH manifesting as euthyroidism with slight hyperthyrotropinemia. A larger proportion of families express the phenotype of resistance to TSH in the absence of a TSHr defect. In many the inheritance is dominant and the genetic cause has not been yet determined.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1726-4901
pubmed:author
pubmed:issnType
Print
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
441-52
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
The syndrome of resistance to thyroid stimulating hormone.
pubmed:affiliation
Department of Medicine, the Committees on Genetics and Molecular Medicine, J. P Kennedy Jr. Mental Retardation Research Center, The University of Chicago, Chicago, Illinois 60637, USA. refetoff@uchicago.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review