ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2023
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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17 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Transient congenital hypothyroidism with normal size thyroid caused by maternal thyrotropin receptor antibodies: a case report and literature review.BMC pregnancy and childbirth · 2025Pooled it
- Newborn screening for congenital hypothyroidism in France: a study of current professional practices.European thyroid journal · 2026Article
- Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study.Annals of pediatric endocrinology & metabolism · 2026Article
- Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism.The American journal of case reports · 2026Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism.Annals of pediatric endocrinology & metabolism · 2025Article
- Unrecognized constellation of multiple congenital anomalies in a newborn: a rare case report.Annals of medicine and surgery (2012) · 2025Article
- Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.European thyroid journal · 2025Review
- Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.Endocrinology, diabetes & metabolism case reports · 2025Article
- Single-center prospective study on thyroid function outcomes and neurological prognoses at 3 years of age in children with mild neonatal hyperthyrotropinemia.Frontiers in endocrinology · 2025Article
- Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.International journal of neonatal screening · 2024Article
- Age of menarche and final height in patients with permanent congenital hypothyroidism.Annals of pediatric endocrinology & metabolism · 2024Article
- Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.International journal of neonatal screening · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- History of Neonatal Screening of Congenital Hypothyroidism in Portugal.International journal of neonatal screening · 2024Article
- Up-to-date quality survey and evaluation of neonatal screening programs in China.BMC pediatrics · 2024Article
- Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.Life (Basel, Switzerland) · 2023Article
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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
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