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J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. Epub 2014 Jan 21.

European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.

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Université Paris Diderot (J.L.), Sorbonne Paris Cité, F-75019 Paris, France; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F-75019, Paris, France; Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche 676, F-75019 Paris, France; Department of Cell Biology and Neurosciences (A.O.), Istituto Superiore di Sanità, 00161 Rome, Italy; Child Health Section of Glasgow University School of Medicine (M.D.), Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, Scotland, United Kingdom; Swiss Neonatal Screening Laboratory (T.T.), University Children's Hospital, CH-8032 Zurich, Switzerland; Department of Pediatric Endocrinology and Diabetes (H.K.), Charite Children's Hospital, Berlin 10117, Germany; Endocrinology Service and Research Center (G.v.V.), Centre Hospitalier Universitaire Sainte-Justine and Department of Pediatrics, University of Montreal, Montreal, Canada H3T 1C5; AP-HP, Hôpital Necker Enfants-Malades, Endocrinologie, Gynécologie et Diabétologie Pédiatriques (M.P.), Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Université Paris Descartes, Sorbonne Paris Cité, INSERM, Unité 845, F-75015 Paris, France; and Department of Paediatric and Adolescent Medicine and Endocrinology (G.B.), University College London Hospital, and University College London Institute of Child Health, London NW1 2PQ, United Kingdom.



The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH).


A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion.


Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement.


The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T4 supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy.

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