Linked Life Data

3110251

Source:http://linkedlifedata.com/resource/pubmed/id/3110251

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1987-8-10
pubmed:abstractText
We have studied the largest kindred with familial dysalbuminemic hyperthyroxinemia (FDH) thus far reported, comprising thirty-three blood relations in four generations and three of their spouses. Our objective was to complement previous evidence concerning the precise mode of inheritance of FDH and to detect any other features of the disorder that had not yet been noted. Among the thirty three, there were thirteen patients with FDH, eight males and five females, in all of whom the abnormality appeared to be fully expressed. Within the kindred, no affected female has borne a female child, but transmission from female to male, male to male, and male to female has been observed. Among the offspring of individuals with FDH, the overall observed frequency of FDH in three filial generations was 12/22, or 54.5 per cent, yielding a computed penetrance ratio of 1.09. Four of the patients with FDH had been investigated for hyperthyroidism, and two of them had mistakenly been treated. Of particular interest were two women with FDH who were receiving oral contraceptives and whose serum thyroxine-binding globulin (TBG) concentrations were increased. The results of their thyroid function tests differed from those of patients with FDH whose TBG concentrations were normal and mainly suggested the presence of only a high TBG state. The diagnosis of FDH in these two patients was obscured, and probably would not have been made were it not for the present investigation, which led to the electrophoretic demonstration of increased binding of T4 by serum albumin.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0391-4097
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
33-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.