| Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. | |
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MedLine Citation:
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PMID: 20560980 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Introduction Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of expression of paternally transcribed genes in a highly imprinted region of chromosome 15q11-13. The clinical phenotype has been well characterized, mostly related to hypothalamic dysfunction. Even though central hypothyroidism has been documented in 20-30% of patients with PWS, thyroid function during the first 2 years of life has not been clearly defined. Objective To evaluate hypothalamic-pituitary-thyroid function in infant PWS patients. Study design Eighteen patients with PWS, aged 0·16-2 years, were included in a prospective study. PWS diagnosis was based on clinical features and molecular analysis. Serum total (T) T4, free (F) T4, T3 and thyroid-stimulating hormone (TSH) were evaluated in the patients with PWS included in the study. Serum hormone values were compared to those of a large reference population of the same age. Results In 13 of 18 patients with PWS (72·2%), serum TT4 and/or FT4 levels were below the 2·5th percentile of the reference population, while in only one PWS patient serum T3 was below this cut-off. Conclusion The results of this study suggest that transient or definitive thyrotropin-releasing hormone (TRH)-TSH thyroid axis dysfunction may frequently be present in infant PWS patients. Paediatricians should be aware of this dysfunction in this critical period of thyroid hormone action on neurological development. |
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Authors:
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Elisa Vaiani; Viviana Herzovich; Eduardo Chaler; Lilien Chertkoff; Marco A Rivarola; Maria Torrado; Alicia Belgorosky |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical endocrinology Volume: 73 ISSN: 1365-2265 ISO Abbreviation: Clin. Endocrinol. (Oxf) Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2011-01-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0346653 Medline TA: Clin Endocrinol (Oxf) Country: England |
Other Details:
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Languages: eng Pagination: 546-50 Citation Subset: IM |
Copyright Information:
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© 2010 Blackwell Publishing Ltd. |
Affiliation:
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Endocrine Service Genetics Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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