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Clin Pediatr Endocrinol. 2015 Jul;24(3):107-33. doi: 10.1297/cpe.24.107. Epub 2015 Jul 18.

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision).

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Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japa.
Department of Pediatrics, Kawasaki City Hospital, Kawasaki, Japan.
Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Kanagawa, Japan.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Shimane University Hospital Postgraduate Clinical Training Center, Shimane, Japan.
Maternal and Perinatal Center, Tokyo Women's Medical University, Tokyo, Japan.
Division of Neonatal Screening, National Center for Child Health and Development, Tokyo, Japan.
Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
Departments of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Kanagawa Health Service Association, Kanagawa, Japan.
Sapporo IDL, Sapporo, Japan.
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.


Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.


congenital hypothyroidism; guideline; mass screening

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