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. 2023;32(1):26-51.
doi: 10.1297/cpe.2022-0063. Epub 2022 Dec 4.

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Keisuke Nagasaki  1   2   3 , Kanshi Minamitani  2   4 , Akie Nakamura  1   5 , Hironori Kobayashi  1   6 , Chikahiko Numakura  1   7 , Masatsune Itoh  2   8 , Yuichi Mushimoto  2   9 , Kaori Fujikura  10   11 , Masaru Fukushi  10   12 , Toshihiro Tajima  1   13
Affiliations

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Keisuke Nagasaki et al. Clin Pediatr Endocrinol. 2023.

Abstract

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.

Keywords: congenital hypothyroidism; guideline; newborn screening.

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Conflict of interest statement

None of the committee members have a conflict of interest regarding development of the guidelines, based on the criteria for conflict of interest of the Japan Pediatric Society and in accordance with the rules of the Japanese Society for Pediatric Endocrinology.

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