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Mass Screening of Newborns for Congenital Hypothyroidism of Central Origin by Free Thyroxine Measurement of Blood Samples on Filter Paper.
MedLine Citation:
PMID:  22301913     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Objective: To evaluate the effectiveness of mass screening of newborns for congenital hypothyroidism of central origin (CH-C) by measurement of free T4 (FT4) and TSH.Design: Questionnaire-based survey of CH-C patients born between 1999 and 2008 in Kanagawa prefecture, Japan.Methods: TSH and FT4 levels in dried blood spots on filter paper were measured using ELISA kits, and CH-C was diagnosed at FT4 levels below a cutoff of 0.7 ng/dL (9.0 pmol/L). Survey results were collated with the database created by the screening organizer.Results: Twenty-four CH-C patients (18 males) were identified, 14 of whom had multiple pituitary hormone deficiencies (group M); 8, isolated CH-C (group I); and 2, undetermined pituitary involvement (group U). In groups M, I, and U, the number of patients with FT4 levels below the cutoff value at screening was 5 (36%), 7 (88%), and 1 (50%), respectively; other patients had been diagnosed clinically. Thus, 13 patients were true positives, while 9 were false negatives, yielding screening sensitivity of 59.1% and positive predictive value of 11.5%. The calculated sensitivity was 81.8% at a higher cutoff value of 0.9 ng/dL [11.6 pmol/L]. The overall incidence of CH-C was estimated at 1 in 30,833 live births, while that of congenital hypothyroidism of thyroidal origin (CH-T) is 1 in 3,472 live births in Kanagawa prefecture (CH-T/CH-C, 8.9).Conclusions: Newborn screening with combined FT4 and TSH measurements can identify a significant number of CH-C patients before manifestation of clinical symptoms, but a more appropriate FT4 cutoff value should be considered.
Authors:
Masanori Adachi; Akiko Soneda; Yumi Asakura; Koji Muroya; Yuji Yamagami; Fumiki Hirahara
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-2-2
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  -     ISSN:  1479-683X     ISO Abbreviation:  -     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-2-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
M Adachi, Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama , Japan.
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