Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Schilddrüsenhormonresistenz

Patienten mit Schilddrüsenhormonresistenz sind durch eine Struma bei hohen Schilddrüsenhormonspiegel und einer euthyreoten Stoffwechsellage characterisiert. Zur Reduktion des Strumawachstums werden sehr hohe Schilddrüsenhormondosen benötigt. Verschiedene Ursachen der Schilddrüsenhormonresistenz können unterschieden werden. Rezeptordefekte sind am besten untersucht. Weitere Ursachen können ein gestörter Hormontransport durch die Zellmembran, Metabolisierungsstörungen, Störungen beim Eintritt in dien Zellkern und Störungen in den Kofaktoren (RXRA) sein.

Gliederung

Störungen des Schilddrüsenhormonsystems
Hyperthyreose
Hypothyreose
Neigung zu autoimmunbedingten Schilddrüsenerkrankungen
Schilddrüsenhormonresistenz
Allan-Herndon-Dudley-Syndrom
SLC16A2
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
THRA
THRB
Autosomal rezessive generalisierte Schilddrüsenhormonresistenz
THRB
Gestörter Schilddrüsenhormon-Stoffwechsel
SECISBP2
RXRA
Selektive hypophysäre Schilddrüsenhormonresistenz
THRB
Schilddrüsenkarzinome

Referenzen:

1.

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

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2.

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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3.

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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4.

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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5.

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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6.

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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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

Refetoff S et al. (1993) The syndromes of resistance to thyroid hormone.

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15.

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

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16.

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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