Abstract
Primary congenital hypothyroidism is characterized by low levels of circulating thyroid hormones and raised levels of thyrotropin at birth. It can be either permanent or transitory. Most permanent cases (80-85%) result from alterations in the formation of the thyroid gland during embryogenesis (thyroid dysgenesis), and several were shown recently to be produced by mutations in genes responsible for the development of thyroid follicular cells (TITF1, TITF2, PAX8 and TSHR). Less frequently, congenital hypothyroidism is determined by defects in thyroid hormone synthesis (hormonogenesis defects). The latter are usually associated with goiter. Recently, the molecular mechanisms of two forms of hormonogenesis defects (iodine transport defects and Pendred syndrome) were elucidated.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Congenital Hypothyroidism
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / metabolism
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Forkhead Transcription Factors
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Goiter / congenital
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Hearing Loss, Sensorineural / congenital
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Humans
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Hypothyroidism / genetics*
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism
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Receptors, Thyrotropin / genetics
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Receptors, Thyrotropin / metabolism
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Repressor Proteins / genetics
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Repressor Proteins / metabolism
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Syndrome
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Thyroid Gland / abnormalities
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Thyroid Gland / metabolism
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Thyroid Nuclear Factor 1
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Transcription Factors / genetics
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Transcription Factors / metabolism
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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Nuclear Proteins
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Receptors, Thyrotropin
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Repressor Proteins
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Thyroid Nuclear Factor 1
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Transcription Factors