| Two puzzling cases of thyroid dysgenesis. | |
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MedLine Citation:
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PMID: 19153515 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: In the last couple of years, different genes that play major roles in embryonic thyroid development have been identified. Several mutations, e.g., NKX2.1, FOXE1 and PAX8, were identified in patients with congenital hypothyroidism due to thyroid dysgenesis. However, the pathophysiology of most cases of thyroid dysgenesis remains unknown. Due to the sporadic occurrence and discordance observed in monozygotic twins, a classic genetic hypothesis for thyroid dysgenesis is improbable. CASE REPORT: We present two pairs of monozygotic twins discordant for thyroid dysgenesis that exemplify these conceptual difficulties. CONCLUSIONS: Identification of the epigenetic differences observed in monozygotic twins discordant for thyroid dysgenesis may be crucial in discovering the pathogenesis of thyroid dysgenesis. |
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Authors:
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P Kuehnen; A Grueters; H Krude |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-01-21 |
Journal Detail:
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Title: Hormone research Volume: 71 Suppl 1 ISSN: 1423-0046 ISO Abbreviation: Horm. Res. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-01-20 Completed Date: 2009-04-16 Revised Date: 2009-10-23 |
Medline Journal Info:
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Nlm Unique ID: 0366126 Medline TA: Horm Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 93-7 Citation Subset: IM |
Copyright Information:
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Copyright 2009 S. Karger AG, Basel. |
Affiliation:
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Institute of Experimental Paediatric Endocrinology, Charité, Berlin, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Congenital Hypothyroidism / diagnosis, etiology Diseases in Twins / diagnosis Female Humans Male Thyroid Dysgenesis / complications, diagnosis* Thyroid Gland / ultrasonography Twins, Monozygotic* |
| Comments/Corrections | |
Comment In:
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Horm Res. 2009;72(5):320
[PMID:
19844119
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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