The molecular causes of thyroid dysgenesis: A systematic review

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...

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Bibliographic Details
Published in:Journal of endocrinological investigation 2013-09, Vol.36 (8), p.654-664
Main Authors: Nettore, I. C., Cacace, V., De Fusco, C., Colao, A., Macchia, P. E.
Format: Article
Language:English
Subjects:
Animals
Congenital Hypothyroidism - genetics
DNA-Binding Proteins - genetics
Endocrinology
Female
Forkhead Transcription Factors - genetics
Homeobox Protein Nkx-2.5
Homeodomain Proteins - genetics
Humans
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Mice
Nuclear Proteins - genetics
Paired Box Transcription Factors - genetics
PAX8 Transcription Factor
Receptors, Thyrotropin - genetics
Review Article
Thyroid Dysgenesis - genetics
Thyroid Gland - embryology
Thyroid Nuclear Factor 1
Transcription Factors - genetics
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Summary: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.
ISSN:0391-4097
1720-8386
DOI:10.3275/8973