Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thyroiddyshormonogenesis

Thyroiddyshormonogenesis ist eine Gruppe von Erkrankungen mit zu niedrigen Schilddrüsenhormon-Spiegeln und Struma, die auf eine geentische Störung der Hormonsysthese beruhen.

Gliederung

Hypothyreose
Bamforth-Lazarus-Syndrom
Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom
Kongenitale Hypothyreose ohne Struma
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Thyroiddyshormonogenesis
Pendred-Syndrom
SLC26A4
Thyroiddyshormonogenesis 1
SLC5A5
Thyroiddyshormonogenesis 2a
TPO
Thyroiddyshormonogenesis 3
TG
Thyroiddyshormonogenesis 4
IYD
Thyroiddyshormonogenesis 5
DUOXA2
Thyroiddyshormonogenesis 6
DUOX2
Zentrale Hypothyreose

Referenzen:

1.

Baas F et. al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

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2.

Gutnisky VJ et. al. (2004) Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

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3.

Park SM et. al. (2005) Genetics of congenital hypothyroidism.

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4.

Vono-Toniolo J et. al. (2005) Naturally occurring mutations in the thyroglobulin gene.

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5.

Hishinuma A et. al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.

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6.

Alzahrani AS et. al. (2006) Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.

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7.

Kitanaka S et. al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

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8.

Hishinuma A et. al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

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9.

Kanou Y et. al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

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10.

Moreno JC et. al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

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11.

Vigone MC et. al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

Lever EG et. al. (1983) Inherited disorders of thyroid metabolism.

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18.

Cooper DS et. al. (1981) Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature.

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19.

Yoshida S et. al. (1996) A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality.

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20.

Medeiros-Neto G et. al. (1997) Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis.

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21.

MICHEL R et. al. (1964) THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM.

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22.

None (1964) DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS.

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23.

None (1964) GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM.

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24.

Cavarzere P et. al. (2008) Clinical description of infants with congenital hypothyroidism and iodide organification defects.

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