Linked Life Data

3571851

Source:http://linkedlifedata.com/resource/pubmed/id/3571851

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1987-5-22
pubmed:abstractText
We here report three kindreds with a total of 19 persons affected with central and peripheral resistance to thyroid hormones: one kindred with 10 affected persons is the largest reported to date. Male to male transmission of the syndrome was evident in two kindreds, consistent with an autosomal dominant mode of inheritance. During several years of follow up, the degree of resistance to thyroid hormones did not ameliorate. Within a given kindred, a given tissue or tissues was consistently more resistant to thyroid hormone than other tissues. The pattern of tissues most affected in one kindred differed from that of another kindred, perhaps reflecting the inherited underlying molecular defects. Members of kindred A frequently had bone involvement, and several had learning disabilities and recurring infections, while most members of kindreds B and C had little bone involvement, but marked hepatic and cardiac resistance to thyroid hormones. Kinetic studies of the binding of [125I] triiodo-L-thyronine to nuclei from skin fibroblasts from affected patients from each of the kindreds demonstrated decreased maximum binding as compared to normal fibroblasts, but there was no correlation between this parameter and other features of the disease. Four of the 19 patients had previously been treated inappropriately with antithyroid therapies, demonstrating how the syndrome may be readily confused with Graves' disease by some clinicians. Behavior or school performance improved in all children treated with thyroid hormones, and a growth spurt was documented in six children, but objective improvement in IQ scores was not demonstrated, suggesting that initiation of hormone therapy at an early age may be important for maximum benefit.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0391-4097
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
459-70
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei.
pubmed:publicationType
Journal Article