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Neonatal screening for congenital hypothyroidism in Japan
Kanshi Minamitani1, Hiroaki Inomata
1Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japan. kminami@med.teikyo-u.ac.jp
Insights
Newborn screening for congenital hypothyroidism in Japan has dramatically improved intellectual outcomes. Ongoing research addresses challenges like delayed hormone increases and central hypothyroidism detection.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Congenital hypothyroidism (CH) can lead to irreversible intellectual disability and failure to thrive if untreated.
- Early identification and treatment are crucial for preventing severe developmental consequences.
- Newborn mass screening for CH was implemented in Japan in 1979, with guidelines established in 1998.
Purpose of the Study:
- To evaluate the impact of newborn mass screening on congenital hypothyroidism outcomes in Japan.
- To identify ongoing challenges and areas for improvement in CH screening and management.
- To highlight recent advancements in understanding the molecular basis of CH.
Main Methods:
- Implementation of a nationwide newborn mass screening program for CH since 1979.
- Development and application of screening guidelines since 1998.
- Ongoing molecular-level research into causative genes, etiology, and pathology.
Main Results:
- Near-universal screening coverage (approximately 100%) of newborns in Japan.
- Significant improvements in intellectual outcomes for patients with CH, with rare instances of irreversible disability.
- Identification of persistent challenges including delayed thyroid-stimulating hormone increases, management of latent hypothyroidism, and detection of central hypothyroidism.
Conclusions:
- Newborn mass screening has been highly effective in preventing severe outcomes of congenital hypothyroidism.
- Continued research and refinement of screening protocols are necessary to address remaining challenges.
- Advancements in molecular genetics are enhancing the understanding and potential future management of CH.
Abstract:
Congenital hypothyroidism may cause irreversible intellectual disability or failure to thrive if left untreated. Because this disorder can be prevented by early identification and early treatment, newborn mass screening started in 1979 in Japan. A guideline for mass screening for this disease was prepared in 1998. Currently, approximately 100% of newborns undergo this mass screening. The screening results show significant improvement of the intellectual outcome of patients with this disease, with almost no patients having irreversible intellectual disturbance or failure to thrive. However, there are issues of a delayed increase in thyroid stimulating hormone, management of latent hypothyroidism, and detection of central hypothyroidism. In recent years, as studies on this disease have advanced at the molecular level, many causative genes have been reported, clarification of the etiology, pathology, and clinical features has progressed, and new findings have been obtained.
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