1995
DOI: 10.1210/jcem.80.1.7829599
|View full text |Cite
|
Sign up to set email alerts
|

Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

Abstract: Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of inherited euthyroid hyperthyroxinemia in Caucasians. Transmitted as an autosomal dominant trait, it is always associated with high serum total T4 (TT4) and more rarely with elevated total T3 (TT3) and/or rT3 (TrT3) concentrations. Free T4, by dialysis, and TSH levels are normal, suggesting the presence of a T4-binding protein abnormality. The abnormal serum T4 carrier shares some physical and immunological properties with albumin, sugg… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

0
7
0

Year Published

1996
1996
2023
2023

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 9 publications
(7 citation statements)
references
References 28 publications
0
7
0
Order By: Relevance
“…These discrepancies are due to the presence of an abnormal serum albumin that exhibits enhanced binding of T 4 , and patients with FDH are clinically euthyroid (7)(8)(9)(10). Although FDH has been widely reported in the medical literature and accounts for the most common cause of genetic euthyroid hyperthyroxinemia in western countries, particularly among hispanics of Puerto Rican origin (11)(12)(13), to our knowledge no case has been reported in individuals of Chinese or African origin. Recently, the molecular basis of FDH has been found to be a substitution of histidine (CAC) and proline (CCC) for arginine (CGC) in codon 218 of the albumin gene in unrelated western families and in a Japanese kindred, respectively (14)(15)(16).…”
Section: Introductionmentioning
confidence: 90%
“…These discrepancies are due to the presence of an abnormal serum albumin that exhibits enhanced binding of T 4 , and patients with FDH are clinically euthyroid (7)(8)(9)(10). Although FDH has been widely reported in the medical literature and accounts for the most common cause of genetic euthyroid hyperthyroxinemia in western countries, particularly among hispanics of Puerto Rican origin (11)(12)(13), to our knowledge no case has been reported in individuals of Chinese or African origin. Recently, the molecular basis of FDH has been found to be a substitution of histidine (CAC) and proline (CCC) for arginine (CGC) in codon 218 of the albumin gene in unrelated western families and in a Japanese kindred, respectively (14)(15)(16).…”
Section: Introductionmentioning
confidence: 90%
“…FDH is the most common inherited cause of increase in plasma total T 4 (TT 4 ) in the Caucasian population (Croxson et al, 1985), with the highest prevalence in communities of Portuguese or Hispanic origin (De Cosimo et al, 1987;Sunthornthepvarakul et al, 1994;Petersen et al, 1996;Pannain et al, 2000). Indeed, FDH is characterized by an approximate doubling of TT 4 and, to a lesser extent, total reverse T 3 (TrT 3 ) (Weiss et al, 1995). Although subjects with FDH are euthyroid, falsely elevated free T 4 (FT 4 ) values, as measured by standard clinical laboratory techniques (Stockigt et al, 1983), have often led to the erroneous diagnosis of hyperthyroidism, resulting in inappropriate thyroid gland ablative or drug therapy (Croxson et al, 1985;Fleming et al, 1987;Wood et al, 1987;Weiss et al, 1995).…”
Section: Familial Dysalbuminemic Hyperthyroxinemia and Familial Dysalmentioning
confidence: 99%
“…Indeed, FDH is characterized by an approximate doubling of TT 4 and, to a lesser extent, total reverse T 3 (TrT 3 ) (Weiss et al, 1995). Although subjects with FDH are euthyroid, falsely elevated free T 4 (FT 4 ) values, as measured by standard clinical laboratory techniques (Stockigt et al, 1983), have often led to the erroneous diagnosis of hyperthyroidism, resulting in inappropriate thyroid gland ablative or drug therapy (Croxson et al, 1985;Fleming et al, 1987;Wood et al, 1987;Weiss et al, 1995).…”
Section: Familial Dysalbuminemic Hyperthyroxinemia and Familial Dysalmentioning
confidence: 99%
See 2 more Smart Citations