Abstract
Background:
Congenital hypothyroidism (CH) is a frequent disease occurring with an incidence of about 1/2500 newborns/year. In 80-85% of the cases CH is caused by alterations in thyroid morphogenesis, generally indicated by the term "thyroid dysgenesis" (TD). TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (NKX2-1, PAX8, FOXE1, NKX2-5, TSHR) have been reported.
Aim:
This work reviews the main steps of thyroid morphogenesis and all the genetic alterations associated with TD and published in the literature.
MeSH terms
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Animals
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Congenital Hypothyroidism / genetics
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DNA-Binding Proteins / genetics
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Female
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Forkhead Transcription Factors / genetics
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Homeobox Protein Nkx-2.5
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Homeodomain Proteins / genetics
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Humans
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Male
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Mice
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Nuclear Proteins / genetics
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PAX8 Transcription Factor
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Paired Box Transcription Factors / genetics
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Receptors, Thyrotropin / genetics
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Thyroid Dysgenesis / genetics*
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Thyroid Gland / embryology*
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Thyroid Nuclear Factor 1
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Transcription Factors / genetics
Substances
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DNA-Binding Proteins
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FOXE1 protein, human
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Forkhead Transcription Factors
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HHEX protein, human
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Hhex protein, mouse
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Homeobox Protein Nkx-2.5
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Homeodomain Proteins
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NKX2-5 protein, human
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Nkx2-1 protein, mouse
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Nuclear Proteins
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PAX8 Transcription Factor
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PAX8 protein, human
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Paired Box Transcription Factors
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Pax8 protein, mouse
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Receptors, Thyrotropin
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TTF1 protein, human
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Thyroid Nuclear Factor 1
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Transcription Factors