| A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). | |
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MedLine Citation:
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PMID: 19486019 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CONTEXT: The guidelines of the National Academy of Clinical Biochemistry advocated the use of low bloodspot TSH (b-TSH) threshold for newborn screening of congenital hypothyroidism (CH). The impact generated by the application of this indication is largely unknown. OBJECTIVE: To determine the impact on CH epidemiology and classification generated by the introduction of low b-TSH cutoff. DESIGN: Retrospective study of 629,042 newborns screened with b-TSH cutoffs of 12 (years 1999-2002) or 10 mU/l (2003-2005). MEASUREMENTS: Congenital hypothyroidism incidence and classification. Results were compared with those virtually obtained with the previous cutoff (20 mU/l). Clinical re-evaluation after L-T4 withdrawal of a representative group of 140 CH children at 3-5 years. RESULTS: Low b-TSH cutoffs allowed the detection of 435 newborns with confirmed CH (incidence 1:1446). Forty-five percent of CH infants, including 12/141 dysgenesis, would have been missed using the 20 mU/l cutoff. In contrast to current classification, 32% CH newborns had thyroid dysgenesis and 68% had a gland in situ (GIS). Premature birth was present in 20% of cases being associated with a 3-5 fold increased risk of GIS CH. Re-evaluation at 3-5 years showed a permanent thyroid dysfunction in 78% of 59 CH toddlers with GIS. CONCLUSIONS: The use of low b-TSH cutoff allowed the detection of an unsuspected number of children with neonatal hypothyroidism, evolving in mild permanent thyroid dysfunction later in life. The incidence of CH in this Italian population appears to be double than previously thought with a clear-cut prevalence of functional defects over dysgenetic ones. |
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Authors:
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Carlo Corbetta; Giovanna Weber; Francesca Cortinovis; Davide Calebiro; Arianna Passoni; Maria C Vigone; Paolo Beck-Peccoz; Giuseppe Chiumello; Luca Persani |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-03-28 |
Journal Detail:
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Title: Clinical endocrinology Volume: 71 ISSN: 1365-2265 ISO Abbreviation: Clin. Endocrinol. (Oxf) Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-10-08 Completed Date: 2009-12-30 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: 739-45 Citation Subset: IM |
Affiliation:
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Laboratory for Neonatal Screening, Buzzi Children Hospital, Milan, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Congenital Hypothyroidism / blood*, diagnosis* Humans Infant, Newborn Neonatal Screening / methods* Thyrotropin / blood* |
| Chemical | |
Reg. No./Substance:
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9002-71-5/Thyrotropin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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