Neonatology

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Neonatal thyroid disorders, congenital hypothyroidism

Algeria

• International Journal of Neonatal Screening
  • The Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter Study in Algeria [2025]

Australia

• WA Health
  • Thyroid Disorder: Care of the Infant Born to Women with Thyroid Disorders

Australia, New Zealand

• Clinical Chemistry and Laboratory Medicine
  • Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation [2022]

• Journal of Paediatrics and Child Health
  • Clinical survey of current practice regarding treatment of children with borderline thyroid abnormalities [2023]

Canada

• International Journal of Neonatal Screening
  • Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program [2024]

China

• Chinese Medical Journal
  • Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013–2018 [2021]

Europe

• European Society for Paediatric Endocrinology
  • Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology [2021]
  • European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism [2014]

Europe, United States

• International Journal of Neonatal Screening
  • A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools [2021]

Finland

• Pediatric Research
  • Incidence of primary congenital hypothyroidism over 24 years in Finland [2023]

France

• Annals of Epidemiology
  • Congenital and acquired hypothyroidism: Temporal and spatial trends in France from 2014 to 2019 [2024]

Germany

• European Journal of Pediatrics
  • Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE “HypoDok”) [2021]

• International Journal of Neonatal Screening
  • Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok) [2021]

India

• Indian Academy of Pediatrics
  • Hypothyroidism [2022]

Indonesia

• International Journal of Neonatal Screening
  • Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey [2024]

International

• European Journal of Endocrinology
  • Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? [2017]

• European Thyroid Journal
  • Newborn screening for primary congenital hypothyroidism: past, present and future [2025]
  • Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start [2025]
  • Newborn screening for central congenital hypothyroidism: past, present and future [2025]
  • 50 years of newborn screening for congenital hypothyroidism: evolution of insights in etiology, diagnosis and management: transient or permanent congenital hypothyroidism: from milestones to current and future perspectives [2025]
  • 50 years of newborn screening for congenital hypothyroidism: evolution of insights in etiology, diagnosis and management: management during pregnancy and long-term outcomes of adult patients with congenital hypothyroidism [2025]

• Frontiers in Endocrinology
  • Primary congenital hypothyroidism: a clinical review [2025]
  • Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review [2022]
  • Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism [2022]

• Genes
  • Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database [2021]

• Inquiry
  • Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review [2021]

Iran

• International Journal of Endocrinology and Metabolism
  • Familial-Related Risks for Congenital Hypothyroidism in Iranian Newborns: A Population-Based Case-Control Study [2021]
  • A Success Story: Review of the Implementation and Achievements of the National Newborn Screening Program for Congenital Hypothyroidism in Iran [2020]

• Iranian Journal of Pediatrics
  • Congenital Hypothyroidism Screening Program in Iran; a Systematic Review and Metaanalysis [2014]

• Nutrients
  • The Impact of Iodine Status on the Recall Rate of the Screening Program for Congenital Hypothyroidism: Findings from Two National Studies in Iran [2017]

Israel

• Israel Medical Association Journal
  • Risk Factors of Congenital Hypothyroidism in Israel [2022]

• Journal of Clinical Endocrinology & Metabolism
  • Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis [2025]

Italy

• International Journal of Neonatal Screening
  • Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases? [2025]

Japan

• Clinical Pediatric Endocrinology
  • Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision) [2023]
  • Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision) [2015]

• International Journal of Neonatal Screening
  • Newborn Screening for Congenital Hypothyroidism in Japan [2021]

Macedonia

• Frontiers in Endocrinology
  • Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia [2020]

• International Journal of Neonatal Screening
  • Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia [2017]
  • Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism [2017]

• Turkish Journal of Pediatrics
  • Prevalence of congenital hypothyroidism in North Macedonia: data from a newborn screening program conducted for twenty years [2023]

Malaysia

• Ministry of Health Malaysia
  • Screening, Diagnosis and Management of Congenital Hypothyroidism in Malaysia [2021]
  • National Screening Programme for Congenital Hypothyroidism [2018]

Morocco

• International Journal of Neonatal Screening
  • Implementation of Neonatal Screening Program for Congenital Hypothyroidism in Eastern Morocco [2025]

Netherlands

• Clinical Biochemistry
  • Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism [2023]

• European Thyroid Journal
  • Newborn screening and the screening laboratory: past, present and future [2025]
  • Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch? [2023]
  • Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin [2021]

• Frontiers in Endocrinology
  • Diagnosis and Management of Central Congenital Hypothyroidism [2021]

New Zealand

• Starship
  • Congenital Hypothyroidism - early assessment and management

Oman

• Ministry of Health Oman
  • Congenital Hypothyroidism – Procedure for Neonatal Screening and Management Guideline

Pakistan

• Global Pediatric Health
  • A National Survey on Congenital Hypothyroidism Newborn Screening in Pakistan [2024]

Poland

• Endokrynologia Polska
  • Congenital hypothyroidism — Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism [2016]

Portugal

• International Journal of Neonatal Screening
  • History of Neonatal Screening of Congenital Hypothyroidism in Portugal [2024]

Republic of Korea

• Nutrients
  • Thyroid Dysfunction and the Effect of Iodine-Deficient Parenteral Nutrition in Very Low Birth Weight Infants: A Nationwide Analysis of a Korean Neonatal Network Database [2022]

Romania

• Acta Endocrinologica (Bucharest)
  • Neonatal Screening for Congenital Hypothyroidism in Romania: Data from Medilog Medical Information Registry [2019]

Singapore

• Annals Academy of Medicine Singapore
  • Screening for Congenital Hypothyroidism [2020]

Spain

• Anales de Pediatría (English Edition)
  • Assessment of thyroid function in the preterm and/or very low birth weight newborn [2021]
  • Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening [2019]

Sri Lanka

• BMC Health Services Research
  • Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward [2014]

• Sri Lanka Journal of Child Health
  • Guidelines on management of congenital hypothyroidism in Sri Lanka [2015]

Turkey

• Journal of Clinical Research in Pediatric Endocrinology
  • Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-deficient Countries [2025]
  • Neonatal Thyroid-Stimulating Hormone Screening as a Monitoring Tool for Iodine Deficiency in Turkey [2016]

• Journal of Endocrinological Investigation
  • High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients [2024]

United Kingdom

• European Thyroid Journal
  • Screening for Congenital Hypothyroidism: Comparison of Borderline Screening Cut-Off Points and the Effect on the Number of Children Treated with Levothyroxine [2013]

• International Journal of Neonatal Screening
  • Processing of Positive Newborn Screening Results for Congenital Hypothyroidism: A Qualitative Exploration of Current Practice in England [2021]

• NHS England
  • Laboratory guide to screening for CHT in the UK

• Public Health England
  • Congenital hypothyroidism: initial clinical referral guidelines

• Right Decisions
  • Neonatal Thyrotoxicosis

• UK National Screening Committee
  • Congenital hypothyroidism

United States

• American Academy of Pediatrics
  • Congenital Hypothyroidism: Screening and Management [2022]

• Archives of Disease in Childhood. Fetal and Neonatal Edition
  • Screening for Congenital Hypothyroidism in Newborns Transferred to Neonatal Intensive Care [2012]

{Related topics}

• Topic
  • Thyroid diseases in pregnancy
  • Newborn
  • Neonatal screening