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Objectives

To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development.

Subjects and methods

Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patients, and TSH receptor (TSHR) gene in those with hypoplasia.

Results

In 27 nonconsanguineous patients with TD, 13 were diagnosed with ectopia, 11 with hypoplasia, and 3 with athyreosis. No mutations were detected in any of the genes studied.

Conclusion

Sporadic cases of TD are likely to be caused by epigenetic factors, rather than mutations in thyroid transcription factors or genes involved in thyroid development."xsd:string
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http://purl.uniprot.org/citations/22666732http://purl.uniprot.org/core/author"Marui S."xsd:string
http://purl.uniprot.org/citations/22666732http://purl.uniprot.org/core/author"Watanabe T."xsd:string
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http://purl.uniprot.org/citations/22666732http://purl.uniprot.org/core/author"Chammas M.C."xsd:string
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http://purl.uniprot.org/citations/22666732http://purl.uniprot.org/core/title"Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis."xsd:string
http://purl.uniprot.org/citations/22666732http://purl.uniprot.org/core/volume"56"xsd:string
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