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Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life.
MedLine Citation:
PMID:  20560980     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Elisa Vaiani; Viviana Herzovich; Eduardo Chaler; Lilien Chertkoff; Marco A Rivarola; Maria Torrado; Alicia Belgorosky
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical endocrinology     Volume:  73     ISSN:  1365-2265     ISO Abbreviation:  Clin. Endocrinol. (Oxf)     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2011-01-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0346653     Medline TA:  Clin Endocrinol (Oxf)     Country:  England    
Other Details:
Languages:  eng     Pagination:  546-50     Citation Subset:  IM    
Copyright Information:
© 2010 Blackwell Publishing Ltd.
Affiliation:
Endocrine Service Genetics Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina.
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