Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thyroiddyshormonogenesis 4

Die Thyroiddyshormonogenesis 4 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im IYD-Gen verursacht wird.

Gliederung

Thyroiddyshormonogenesis
Pendred-Syndrom
Thyroiddyshormonogenesis 1
Thyroiddyshormonogenesis 2a
Thyroiddyshormonogenesis 3
Thyroiddyshormonogenesis 4
IYD
Thyroiddyshormonogenesis 5
Thyroiddyshormonogenesis 6

Referenzen:

1.

HUTCHISON JH et. al. (1954) Hypothyroidism as an inborn error of metabolism.

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2.

Moreno JC et. al. (2008) Mutations in the iodotyrosine deiodinase gene and hypothyroidism.

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3.

Afink G et. al. (2008) Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.

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4.

KUSAKABE T et. al. (1963) Defective deiodination of I-131-labeled L-diiodotyrosine in patients with simple goiter.

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5.

KUSAKABE T et. al. (1964) THYROIDAL DEIODINATION DEFECT IN THREE SISTERS WITH SIMPLE GOITER.

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6.

Ismail-Beigi F et. al. (1977) A variant of iodotyrosine-dehalogenase deficiency.

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7.

Rochiccioli P et. al. (1974) [Thyroid hormonosynthesis disorders due to iodotyrosine-dehalogenase deficiency. Value of the D.I.T. test for the detection of heterozygotes].

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8.

Codaccioni JL et. al. () [Infantile hypothyroidism caused by iodotyrosine-dehalogenase deficiency. II. Results of iodine treatment in 5 cases (8 years of recession in 1 case].

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