Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autosomal dominante generalisierte Schilddrüsenhormonresistenz

Das Nichtansprechen auf Schilddrüsenhormon ist eine Erkrankung die auf Mutationen des Schilddrüsenhormonrezeptors beruht. Dies kann die beta- (THRB) oder alpha-Untereinheit (THRA) betreffen. Die Vererbung ist in beiden Fällen autosomal dominant. Bei den Patienten findet sich deutliche erhöhte Schilddrüsenhormonspiegel trotz einer euthyreoten Stoffwechsellage. Auch das TSH ist meist erhöht und befördert das Strumawachstum. Die Patienten fallen meist dadurch auf, dass sie extrem hohe Dosen an Schilddrüsenhormon zur Eindämmung des Strumawachstums benötigen.

Gliederung

Schilddrüsenhormonresistenz
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
THRA
THRB
Autosomal rezessive generalisierte Schilddrüsenhormonresistenz
RXRA
Selektive hypophysäre Schilddrüsenhormonresistenz

Referenzen:

1.

van Gucht ALM et. al. (2017) Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.

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2.

Moran C et. al. (2015) Resistance to thyroid hormone due to defective thyroid receptor alpha.

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3.

Vlaeminck-Guillem V et. al. (2015) TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

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4.

Tang Y et. al. (2016) Resistance to thyroid hormone α, revelation of basic study to clinical consequences.

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5.

Mamanasiri S et al. (2006) Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

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6.

Usala SJ et al. (1991) A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

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7.

Usala SJ et al. (1990) A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

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8.

Sakurai A et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

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9.

Magner JA et al. (1986) 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.

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10.

Pohlenz J et al. (1999) Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.

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11.

Usala SJ et al. (1988) Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene.

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12.

Gharib H et al. (1985) Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones.

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13.

Hopwood NJ et al. (1986) Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis?

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14.

Elewaut A et al. (1976) Familial partial target organ resistance to thyroid hormones.

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15.

Bantle JP et al. (1982) Resistance to thyroid hormones. A disorder frequently confused with Graves' disease.

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16.

Brooks MH et al. (1981) Familial thyroid hormone resistance.

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17.

Maxon HR et al. (1980) Euthyroid, familial hyperthyroxinemia.

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18.

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19.

Hauser P et al. (1993) Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone.

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20.

Weiss RE et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.

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