Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper
| Autor: | Masanori Adachi, Koji Muroya, Fumiki Hirahara, Yumi Asakura, Yuji Yamagami, Akiko Soneda |
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| Rok vydání: | 2012 |
| Předmět: |
Male
medicine.medical_specialty Free thyroxine measurement Endocrinology Diabetes and Metabolism Survey result Thyroid Function Tests Neonatal Screening Endocrinology Japan Surveys and Questionnaires Internal medicine Congenital Hypothyroidism medicine Humans Mass Screening Cutoff Mass screening Newborn screening business.industry Incidence (epidemiology) Infant Newborn General Medicine medicine.disease Congenital hypothyroidism Thyroxine Pituitary hormones Female Dried Blood Spot Testing business hormones hormone substitutes and hormone antagonists |
| Zdroj: | European Journal of Endocrinology. 166:829-838 |
| ISSN: | 1479-683X 0804-4643 |
| DOI: | 10.1530/eje-11-0653 |
| Popis: | Objective: To evaluate the effectiveness of mass screening of newborns for congenital hypothyroidism of central origin (CH-C) by measurement of free thyroxine (FT4) and thyroid-stimulating hormone (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), eight had isolated CH-C (group I), and two had 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 five (36%), seven (88%), and one (50%) respectively; other patients had been diagnosed clinically. Thus, 13 patients were true positives, while nine 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 CH of thyroidal origin (CH-T) is 1 in 3472 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. |
| Databáze: | OpenAIRE |
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