Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Hypothyreose ohne Struma 4

Die kongenitale Hypothyreose ohne Struma 4 ist eine autosomal rezessive Erkrankung, die durch Mutationen im TSHB-Gen ausgelöst wird.

Gliederung

Kongenitale Hypothyreose ohne Struma
Kongenitale Hypothyreose ohne Struma 1
Kongenitale Hypothyreose ohne Struma 2
Kongenitale Hypothyreose ohne Struma 3
Kongenitale Hypothyreose ohne Struma 4
TSHB
Kongenitale Hypothyreose ohne Struma 5
Kongenitale Hypothyreose ohne Struma 6

Referenzen:

1.

Dacou-Voutetakis C et. al. (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

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2.

Hayashizaki Y et. al. (1989) Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

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3.

Medeiros-Neto G et. al. (1996) A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

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4.

Doeker BM et. al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

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5.

Bonomi M et. al. (2001) Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

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6.

Vuissoz JM et. al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

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7.

Pohlenz J et. al. (2002) Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

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8.

Brumm H et. al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

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9.

Borck G et. al. (2004) Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

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10.

Faglia G et. al. (1979) Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin.

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11.

Petersen VB et. al. (1978) The secretion of thyrotrophin with impaired biological activity in patients with hypothalamic-pituitary disease.

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12.

Illig R et. al. (1975) Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism.

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13.

Miyai K et. al. (1971) Familial isolated thyrotropin deficiency with cretinism.

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14.

Grabow JD et. al. (1968) Thyrotropin hormone deficiency with a peripheral neuropathy.

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15.

None (1974) Glandular end organ deficiency associated with secretion of biologically inactive pituitary peptides.

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16.

Mitnick M et. al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".

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17.

Pittman JA et. al. (1971) Hypothalamic hypothyroidism.

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18.

Zisman E et. al. (1969) Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin.

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19.

Sawin CT et. al. (1966) Isolated lack of thyrotropin in man.

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20.

Nygren A et. al. (1982) Isolated thyrotropin deficiency in a man with narcoleptic attacks.

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21.

Kohno H et. al. (1980) Pituitary cretinism in two sisters.

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