Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

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  • Nagasaki Keisuke
    Mass Screening Committee, Japanese Society for Pediatric Endocrinology Thyroid Committee, Japanese Society for Pediatric Endocrinology Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
  • Minamitani Kanshi
    Thyroid Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japan
  • Nakamura Akie
    Mass Screening Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
  • Kobayashi Hironori
    Mass Screening Committee, Japanese Society for Pediatric Endocrinology Laboratories Division, Shimane University Hospital, Izumo, Japan
  • Numakura Chikahiko
    Mass Screening Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
  • Itoh Masatsune
    Thyroid Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Kanazawa Medical University, Kanazawa, Japan
  • Mushimoto Yuichi
    Thyroid Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
  • Fujikura Kaori
    Japanese Society for Neonatal Screening Sapporo City Institute of Public Health, Sapporo, Japan
  • Fukushi Masaru
    Japanese Society for Neonatal Screening Sapporo Immuno Diagnostic Laboratory (IDL), Sapporo, Japan
  • Tajima Toshihiro
    Mass Screening Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Jichi Medical University Tochigi Children’s Medical Center, Tochigi, Japan

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<p>Purpose of developing the guidelines: Newborn screening (NBS) for congenital hypothyroidism (CH) was started in 1979 in Japan, and early diagnosis and treatment improved the intelligence prognosis of CH patients. The incidence of CH was once about one in 5,000–8,000 births, but has been increased with diagnosis of subclinical CH. The disease requires continuous treatment and specialized medical facilities should conduct differential diagnosis and treatment in patients who are positive by NBS 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, the guidelines were revised in 2014. Here, we have added minor revisions to the 2014 version to include the most recent findings. Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.</p>

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