Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Hypothyreose ohne Struma

Die kongenitale Hypothyreose ohne Struma ist eine Gruppe von Erkrankungen, bei der die Hypothyreose auf einer Entwicklungsstörung der Schilddrüse beruht. Der TSH-Wert ist in diesen Erkrankungen massiv erhöht.

Gliederung

Hypothyreose
Bamforth-Lazarus-Syndrom
Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom
Kongenitale Hypothyreose ohne Struma
Kongenitale Hypothyreose ohne Struma 1
TSHR
Kongenitale Hypothyreose ohne Struma 2
PAX8
Kongenitale Hypothyreose ohne Struma 3
Kongenitale Hypothyreose ohne Struma 4
TSHB
Kongenitale Hypothyreose ohne Struma 5
NKX2-5
Kongenitale Hypothyreose ohne Struma 6
THRA
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Thyroiddyshormonogenesis
Zentrale Hypothyreose

Referenzen:

1.

Meeus L et. al. (2004) Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

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2.

Grasberger H et. al. (2005) Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.

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3.

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

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4.

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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5.

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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6.

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

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7.

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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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

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

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14.

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

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15.

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

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16.

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

De Felice M et. al. (2004) Thyroid development and its disorders: genetics and molecular mechanisms.

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26.

BLIZZARD RM et. al. (1960) Maternal autoimmunization to thyroid as a probable cause of athyrotic cretinism.

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27.

SUTHERLAND JM et. al. (1960) Familial nongoitrous cretinism apparently due to maternal antithyroid antibody. Report of a family.

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28.

SHEPARD TH et. al. (1960) Increased incidence of non-tasters of phenylthiocarbamide among congenital athyreotic cretins.

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29.

None (1962) The role of thyroid dysgenesis and maldescent in the etiology of sporadic cretinism.

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30.

NAJJAR SS et. al. (1965) THE KOCHER-DEBR'E-S'EM'ELAIGNE SYNDROME; HYPOTHYROIDISM WITH MUSCULAR "HYPERTROPHY".

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31.

AINGER LE et. al. (1955) Familial athyreotic cretinism: report of 3 cases.

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32.

Castanet M et. al. (2005) Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.

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33.

None (1961) PHENYLTHIOCARBAMIDE NON-TASTING AMONG CONGENITAL ATHYROTIC CRETINS: FURTHER STUDIES IN AN ATTEMPT TO EXPLAIN THE INCREASED INCIDENCE.

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