+1 Recommend
1 collections
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

      Read this article at

          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.



          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.

          Consensus Process:

          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-T 4 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.

          Related collections

          Most cited references 152

          • Record: found
          • Abstract: found
          • Article: not found

          Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society clinical practice guideline.

          The aim was to update the guidelines for the management of thyroid dysfunction during pregnancy and postpartum published previously in 2007. A summary of changes between the 2007 and 2012 version is identified in the Supplemental Data (published on The Endocrine Society's Journals Online web site at http://jcem.endojournals.org). This evidence-based guideline was developed according to the U.S. Preventive Service Task Force, grading items level A, B, C, D, or I, on the basis of the strength of evidence and magnitude of net benefit (benefits minus harms) as well as the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to describe both the strength of recommendations and the quality of evidence. The guideline was developed through a series of e-mails, conference calls, and one face-to-face meeting. An initial draft was prepared by the Task Force, with the help of a medical writer, and reviewed and commented on by members of The Endocrine Society, Asia and Oceania Thyroid Association, and the Latin American Thyroid Society. A second draft was reviewed and approved by The Endocrine Society Council. At each stage of review, the Task Force received written comments and incorporated substantive changes. Practice guidelines are presented for diagnosis and treatment of patients with thyroid-related medical issues just before and during pregnancy and in the postpartum interval. These include evidence-based approaches to assessing the cause of the condition, treating it, and managing hypothyroidism, hyperthyroidism, gestational hyperthyroidism, thyroid autoimmunity, thyroid tumors, iodine nutrition, postpartum thyroiditis, and screening for thyroid disease. Indications and side effects of therapeutic agents used in treatment are also presented.
            • Record: found
            • Abstract: found
            • Article: not found

            Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society Clinical Practice Guideline.

            The objective is to provide clinical guidelines for the management of thyroid problems present during pregnancy and in the postpartum. The Chair was selected by the Clinical Guidelines Subcommittee (CGS) of The Endocrine Society. The Chair requested participation by the Latin American Thyroid Society, the Asia and Oceania Thyroid Society, the American Thyroid Association, the European Thyroid Association, and the American Association of Clinical Endocrinologists, and each organization appointed a member to the task force. Two members of The Endocrine Society were also asked to participate. The group worked on the guidelines for 2 yr and held two meetings. There was no corporate funding, and no members received remuneration. Applicable published and peer-reviewed literature of the last two decades was reviewed, with a concentration on original investigations. The grading of evidence was done using the United States Preventive Services Task Force system and, where possible, the GRADE system. Consensus was achieved through conference calls, two group meetings, and exchange of many drafts by E-mail. The manuscript was reviewed concurrently by the Society's CGS, Clinical Affairs Committee, members of The Endocrine Society, and members of each of the collaborating societies. Many valuable suggestions were received and incorporated into the final document. Each of the societies endorsed the guidelines. Management of thyroid diseases during pregnancy requires special considerations because pregnancy induces major changes in thyroid function, and maternal thyroid disease can have adverse effects on the pregnancy and the fetus. Care requires coordination among several healthcare professionals. Avoiding maternal (and fetal) hypothyroidism is of major importance because of potential damage to fetal neural development, an increased incidence of miscarriage, and preterm delivery. Maternal hyperthyroidism and its treatment may be accompanied by coincident problems in fetal thyroid function. Autoimmune thyroid disease is associated with both increased rates of miscarriage, for which the appropriate medical response is uncertain at this time, and postpartum thyroiditis. Fine-needle aspiration cytology should be performed for dominant thyroid nodules discovered in pregnancy. Radioactive isotopes must be avoided during pregnancy and lactation. Universal screening of pregnant women for thyroid disease is not yet supported by adequate studies, but case finding targeted to specific groups of patients who are at increased risk is strongly supported.
              • Record: found
              • Abstract: found
              • Article: not found

              Serum thyroid-stimulating hormone concentration and morbidity from cardiovascular disease and fractures in patients on long-term thyroxine therapy.

              For patients on T(4) replacement, the dose is guided by serum TSH concentrations, but some patients request higher doses due to adverse symptoms. The aim of the study was to determine the safety of patients having a low but not suppressed serum TSH when receiving long-term T(4) replacement. We conducted an observational cohort study, using data linkage from regional datasets between 1993 and 2001. A population-based study of all patients in Tayside, Scotland, was performed. All patients taking T(4) replacement therapy (n = 17,684) were included. Fatal and nonfatal endpoints were considered for cardiovascular disease, dysrhythmias, and fractures. Patients were categorized as having a suppressed TSH ( 4.0 mU/liter). Cardiovascular disease, dysrhythmias, and fractures were increased in patients with a high TSH: adjusted hazards ratio, 1.95 (1.73-2.21), 1.80 (1.33-2.44), and 1.83 (1.41-2.37), respectively; and patients with a suppressed TSH: 1.37 (1.17-1.60), 1.6 (1.10-2.33), and 2.02 (1.55-2.62), respectively, when compared to patients with a TSH in the laboratory reference range. Patients with a low TSH did not have an increased risk of any of these outcomes [hazards ratio: 1.1 (0.99-1.123), 1.13 (0.88-1.47), and 1.13 (0.92-1.39), respectively]. Patients with a high or suppressed TSH had an increased risk of cardiovascular disease, dysrhythmias, and fractures, but patients with a low but unsuppressed TSH did not. It may be safe for patients treated with T(4) to have a low but not suppressed serum TSH concentration.

                Author and article information

                J Clin Endocrinol Metab
                J. Clin. Endocrinol. Metab
                The Journal of Clinical Endocrinology and Metabolism
                Endocrine Society (Chevy Chase, MD )
                February 2014
                21 January 2014
                21 January 2014
                : 99
                : 2
                : 363-384
                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
                Author notes
                Address all correspondence and requests for reprints to: Professor Gary E. Butler, Department of Paediatric and Adolescent Endocrinology, University College London Hospital, 250 Euston Road, London NW1 2PQ, United Kingdom. E-mail: gary.butler@ 123456ucl.ac.uk .
                Copyright © 2014 by The Endocrine Society

                This article has been published under the terms of the Creative Commons Attribution License ( CC-BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Copyright for this article is retained by the author(s). Author(s) grant(s) the Endocrine Society the exclusive right to publish the article and identify itself as the original publisher.

                Special Features
                Clinical Practice Guideline

                Endocrinology & Diabetes


                Comment on this article