Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Hypothyreose

Als Hypothyreose wird eine Krankheit mit zu geringer Sekretion von Schilddrüsenhormon bezeichnet. Genetisch bedingte Hypothyreosen können mit oder ohne Struma einhergehen.

Diagnosestellung

G cluster_0 cluster_1 cluster_2 g0 Hypothyreose g1 Hypothyreose mit erhöhtem TSH g0->g1 TSH erhöht g5 Hypothyreose mit erniedrigem TSH g0->g5 TSH erniedrigt g2 Kongenitale Hypothyreose bei Hormonbildungsstörung g1->g2 Struma g3 Kongenitale Hypothyreose bei Agenesie/Dysgenesie g1->g3 keine Struma d11 Thyroiddyshormonogenesis 1 SLC5A5 g2->d11 keine Schwerhörigkeit d17 Pendred-Syndrom SLC26A4 g2->d17 Schwerhörigkeit d21 Kongenitale Hypothyreose ohne Struma 1 TSHR g3->d21 g4 Kongenitale Hypothyreose bei fehlender zentraler Stimulation d31 Zentrale Hypothyreose und Makroorchidie IGSF1 g4->d31 g5->g4 d12 Thyroiddyshormonogenesis 2a TPO d13 Thyroiddyshormonogenesis 3 TG d14 Thyroiddyshormonogenesis 4 IYD d15 Thyroiddyshormonogenesis 5 DUOXA2 d16 Thyroiddyshormonogenesis 6 DUOX2 d22 Kongenitale Hypothyreose ohne Struma 2 PAX8 d23 Kongenitale Hypothyreose ohne Struma 3 d24 Kongenitale Hypothyreose ohne Struma 5 NKX2-5 d32 Generalisierte TRH-Resistenz TRHR d33 TRH-Mangel TRH d34 Kongenitale Hypothyreose ohne Struma 4 TSHB
Hypothyreose

Gliederung

Störungen des Schilddrüsenhormonsystems
Hyperthyreose
Hypothyreose
Bamforth-Lazarus-Syndrom
FOXE1
Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom
NKX2-1
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
GLIS3
Thyroiddyshormonogenesis
Pendred-Syndrom
SLC26A4
Thyroiddyshormonogenesis 1
SLC5A5
Thyroiddyshormonogenesis 2a
TPO
Thyroiddyshormonogenesis 3
TG
Thyroiddyshormonogenesis 4
IYD
Thyroiddyshormonogenesis 5
DUOXA2
Thyroiddyshormonogenesis 6
DUOX2
Zentrale Hypothyreose
Generalisierte TRH-Resistenz
TRHR
TRH-Mangel
TRH
Zentrale Hypothyreose und Makroorchidie
IGSF1
Neigung zu autoimmunbedingten Schilddrüsenerkrankungen
Schilddrüsenhormonresistenz
Schilddrüsenkarzinome

Referenzen:

1.

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

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2.

Carré A et al. (2007) Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

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3.

Paschke R et al. (1997) The thyrotropin receptor in thyroid diseases.

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4.

de Roux N et al. (1996) Four families with loss of function mutations of the thyrotropin receptor.

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5.

Clifton-Bligh RJ et al. (1997) Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

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6.

Abramowicz MJ et al. (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

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7.

Biebermann H et al. (1997) Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

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8.

Medeiros-Neto GA et al. (1979) Imparied cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency.

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9.

Levine MA et al. (1985) Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.

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10.

Stanbury JB et al. (1968) Congenital hypothyroidism with impaired thyroid response to thyrotropin.

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11.

Marx SJ et al. (1971) Thyroid dysfunction in pseudohypoparathyroidism.

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12.

Codaccioni JL et al. (1980) Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations.

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13.

Beamer WJ et al. (1981) Inherited primary hypothyroidism in mice.

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14.

Takeshita A et al. (1994) Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.

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15.

Stein SA et al. (1994) Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse.

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16.

Takamatsu J et al. (1993) Familial unresponsiveness to thyrotropin by autosomal recessive inheritance.

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17.

Ahlbom BD et al. (1997) Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene.

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18.

Xie J et al. (1997) Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.

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19.

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

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20.

Kempers MJ et al. (2009) Morphological abnormalities in children with thyroidal congenital hypothyroidism.

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21.

Denny JC et al. (2011) Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.

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22.

Orphanet article

Orphanet ID 3047 [^]
23.

Wikipedia Artikel

Wikipedia DE (Hypothyreose) [^]
Update: 29. April 2019