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

G cluster_0 cluster_1 cluster_2 g0 Hypothyroidism g1 Hypothyroidism with elevated TSH g0->g1 TSH elevated g5 Hypothyroidism without TSH g0->g5 TSH not measurable g2 Congenital hypothyroidism disturbed homone production g1->g2 Goiter g3 Congenital hypothyroidism agenesis/dysgenesis g1->g3 Non-goiter d11 Thyroid dyshormonogenesis 1 SLC5A5 g2->d11 Non-deafness d17 Pendred syndrome SLC26A4 g2->d17 Deafness d21 Congenital nongoitrous hypothyroidism 1 TSHR g3->d21 g4 Congenital hypothyroidism central d31 Central hypothyroidism and testicular enlargement IGSF1 g4->d31 g5->g4 d12 Thyroid dyshormonogenesis 2a TPO d13 Thyroid dyshormonogenesis 3 TG d14 Thyroid dyshormonogenesis 4 IYD d15 Thyroid dyshormonogenesis 5 DUOXA2 d16 Thyroid dyshormonogenesis 6 DUOX2 d22 Congenital nongoitrous hypothyroidism 2 PAX8 d23 Congenital nongoitrous hypothyroidism 3 d24 Congenital nongoitrous hypothyroidism 5 NKX2-5 d32 Generalized thyrotropin-releasing hormone resistance TRHR d33 Thyrotropin-releasing hormone deficiency TRH d34 Congenital nongoitrous hypothyroidism 4 TSHB
Hypothyroidism

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.

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 article

Wikipedia EN (Hypothyroidism) [^]
Update: April 29, 2019