Nagasaki Keisuke, Minamitani Kanshi, Nakamura Akie, Kobayashi Hironori, Numakura Chikahiko, Itoh Masatsune, Mushimoto Yuichi, Fujikura Kaori, Fukushi Masaru, Tajima Toshihiro
Mass Screening Committee, Japanese Society for Pediatric Endocrinology.
Thyroid Committee, Japanese Society for Pediatric Endocrinology.
Clin Pediatr Endocrinol. 2023;32(1):26-51. doi: 10.1297/cpe.2022-0063. Epub 2022 Dec 4.
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.
日本于1979年开始开展先天性甲状腺功能减退症（CH）的新生儿筛查（NBS），早期诊断和治疗改善了CH患者的智力预后。CH的发病率曾约为每5000 - 8000例出生中有1例，但随着亚临床CH的诊断，发病率有所上升。该疾病需要持续治疗，专业医疗机构应对NBS呈阳性的患者进行鉴别诊断和治疗，以避免不必要的治疗。日本小儿内分泌学会大规模筛查委员会于1998年制定了《先天性甲状腺功能减退症大规模筛查指南》（1998年版）。随后，该指南于2014年进行了修订。在此，我们对2014年版进行了细微修订，以纳入最新研究结果。目标疾病/病症：原发性先天性甲状腺功能减退症 本指南的适用对象：小儿内分泌科专科医生、儿科专科医生、转诊儿科从业者的医生、普通医生、负责大规模筛查的实验室技术人员以及患者。
