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Dysalbuminemic hyperthyroxinemia

Dysalbuminemic hyperthyroxinemia is an autosmal dominant disorder characterized by elevated thyroxin levels in plasma despite of normal thyroid function. The resons for this abnormality are genetic variant of the albumin gene affecting thyroxn binding.

Systematic

Disorder of the thyroid hormon system
Dysalbuminemic hyperthyroxinemia
ALB
Hyperthyroidism
Hypothyroidism
Susceptibility to autoimmune thyroid disease
Thyroid cancer
Thyroid hormone resistance

References:

1.

Barlow JW et al. (1986) Familial dysalbuminaemic hyperthyroxinaemia: studies of albumin binding and implications for hormone action.

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2.

Heufelder AE et al. () Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients.

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3.

Weiss RE et al. (1995) Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

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4.

Rajatanavin R et al. (1982) Elevated serum free thyroxine by thyroxine analog radioimmunoassays in euthyroid patients with familial dysalbuminemic hyperthyroxinemia.

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5.

Barlow JW et al. (1982) Familial euthyroid thyroxine excess: characterization of abnormal intermediate affinity thyroxine binding to albumin.

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6.

Rajatanavin R et al. (1984) Effect of chloride on serum thyroxine binding in familial dysalbuminemic hyperthyroxinemia.

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7.

Lalloz MR et al. (1983) Hyperthyroxinaemia: abnormal binding of T4 by an inherited albumin variant.

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8.

Ruiz M et al. (1982) Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis.

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9.

Lalloz MR et al. (1985) A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinaemia.

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10.

Yabu Y et al. (1985) Heterogeneity of thyroxine binding by serum albumins in normal subjects and patients with familial dysalbuminemic hyperthyroxinemia.

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11.

Sunthornthepvarakul T et al. (1994) An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.

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12.

DeCosimo DR et al. (1987) Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics.

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13.

Yabu Y et al. (1987) A new type of albumin with predominantly increased binding affinity for 3,3',5-triiodothyronine in a patient with Graves' disease.

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14.

Premachandra BN et al. (1988) Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia.

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15.

Jensen IW et al. (1987) Familial dysalbuminemic hyperthyroxinemia.

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16.

Yeo PP et al. (1987) A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin.

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17.

Petitpas I et al. (2003) Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

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18.

Pohlenz J et al. (2001) Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.

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19.

Wada N et al. (1997) A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.

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20.

Petersen CE et al. (1994) A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.

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Update: Aug. 14, 2020
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