Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypothyroidism

Hypothyroidism is an endocrinological disorder in which the thyroid hormone secretion is impaired. Genetically caused forms include those with or without goiter.

Diagnosis

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Systematic

Disorder of the thyroid hormon system
Hyperthyroidism
Hypothyroidism
Bamforth-Lazarus syndrome
FOXE1
Central hypothyroidism
Central hypothyroidism and testicular enlargement
IGSF1
Generalized thyrotropin-releasing hormone resistance
TRHR
Thyrotropin-releasing hormone deficiency
TRH
Choreoathetosis with hypothyroidism and neonatal respiratory distress
NKX2-1
Congenital nongoitrous hypothyroidism
Congenital nongoitrous hypothyroidism 1
TSHR
Congenital nongoitrous hypothyroidism 2
PAX8
Congenital nongoitrous hypothyroidism 3
Congenital nongoitrous hypothyroidism 4
TSHB
Congenital nongoitrous hypothyroidism 5
NKX2-5
Congenital nongoitrous hypothyroidism 6
THRA
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Thyroid dyshormonogenesis
Pendred syndrome
SLC26A4
Thyroid dyshormonogenesis 1
SLC5A5
Thyroid dyshormonogenesis 2a
TPO
Thyroid dyshormonogenesis 3
TG
Thyroid dyshormonogenesis 4
IYD
Thyroid dyshormonogenesis 5
DUOXA2
Thyroid dyshormonogenesis 6
DUOX2
Susceptibility to autoimmune thyroid disease
Thyroid cancer
Thyroid hormone resistance

References:

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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Update: Sept. 26, 2018