Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Störungen des Schilddrüsenhormonsystems

Diese Gruppe fasst alle hereditären Erkrankungen zusammen die das Schilddrüsenhormon betreffen. Gestörte Sekretion, Regulation und Wirkung können unterschieden werden.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erkrankungen der Nebenschilddrüse
Hereditärer Diabetes insipidus
Nierenerkrankungen mit endokrinologischer Manifestation
Phäochromozytom
Störungen der Regulation des Wachstums
Störungen des Schilddrüsenhormonsystems
Basedow-Krankheit
GC
Neigung zur thyreotoxischen periodischen Paralyse 1
CACNA1S
Neonataler Diabetes mellitus mit angeborener Hypothyreose
GLIS3
Schilddrüsenhormonresistenz
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
THRB
Autosomal rezessive generalisierte Schilddrüsenhormonresistenz
THRB
RXRA
Selektive hypophysäre Schilddrüsenhormonresistenz
THRB
Störungen des Steroidhormonsystems

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.

Takeda K et al. (1991) Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

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4.

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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5.

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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6.

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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7.

Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.

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8.

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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9.

Charles MA et al. (1975) Nuclear receptors for thyroid hormone: evidence for nonrandom distribution within chromatin.

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10.

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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11.

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

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12.

Oppenheimer JH et al. (1985) Thyroid hormone action at the nuclear level.

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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.

Lamberg BA et al. (1973) Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones.

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15.

Bode HH et al. (1973) Partial target organ resistance to thyroid hormone.

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16.

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

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17.

Refetoff S et al. (1982) Syndromes of thyroid hormone resistance.

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18.

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

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19.

Ohzeki T et al. (1984) Thyroid hormone unresponsiveness in two siblings with intrauterine growth retardation exophthalmos.

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20.

Refetoff S et al. (1980) Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone.

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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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