Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypothyreose

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

Diagnosestellung

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.

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

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4.

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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5.

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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6.

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

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7.

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

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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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