Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid dyshormonogenesis 4

Thyroid dyshormonogenesis 4 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the IYD gene.

Systematic

Thyroid dyshormonogenesis
Pendred syndrome
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 2a
Thyroid dyshormonogenesis 3
Thyroid dyshormonogenesis 4
IYD
Thyroid dyshormonogenesis 5
Thyroid dyshormonogenesis 6

References:

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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9.

OMIM.ORG article

Omim 274800 [^]
Update: April 29, 2019