European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
Juliane Léger,Antonella Olivieri,Malcolm Donaldson,Toni Torresani,Heiko Krude,Guy Van Vliet,Michel Polak,Gary Butler +7 more
TLDR
In this paper, a systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of congenital hypothyroidism (CH) and 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.Abstract:
Objective: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). Evidence: 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. Recommendations: 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.read more
Citations
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Journal ArticleDOI
Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement
Jacqueline Jonklaas,Antonio C. Bianco,Andrew J. Bauer,Kenneth D. Burman,Anne R. Cappola,Francesco S. Celi,David S. Cooper,Brian W. Kim,Robin P. Peeters,M. Sara Rosenthal,Anna M. Sawka +10 more
TL;DR: It is concluded that levothyroxine should remain the standard of care for treating hypothyroidism and no consistently strong evidence for the superiority of alternative preparations is found.
Journal ArticleDOI
Current status of newborn screening worldwide: 2015
Bradford L. Therrell,Carmencita Padilla,Carmencita Padilla,J. Gerard Loeber,Issam Kneisser,Amal Saadallah,Gustavo J.C. Borrajo,John Adams +7 more
TL;DR: The world is divided into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years.
Journal ArticleDOI
Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Giovanna Mantovani,Murat Bastepe,David Monk,Luisa De Sanctis,Susanne Thiele,Alessia Usardi,S Faisal Ahmed,Roberto Bufo,Timothee Choplin,Gianpaolo de Filippo,Guillemette Devernois,Thomas Eggermann,Francesca Elli,Kathleen Freson,Aurora Garcia Ramirez,Emily L. Germain-Lee,Lionel Groussin,Neveen A. T. Hamdy,Patrick Hanna,Olaf Hiort,Harald Jüppner,Peter Kamenický,Nina Knight,Marie Laure Kottler,Elvire Le Norcy,Beatriz Lecumberri,Beatriz Lecumberri,Michael A. Levine,Outi Mäkitie,Regina Matsunaga Martin,Gabriel Á. Martos-Moreno,Masanori Minagawa,Philip Murray,Arrate Pereda,Robert J. Pignolo,Lars Rejnmark,Rebecca Rodado,Anya Rothenbuhler,Vrinda Saraff,Ashley H. Shoemaker,Eileen M. Shore,Caroline Silve,Serap Turan,Philip Woods,M. Carola Zillikens,Guiomar Perez de Nanclares,Agnès Linglart +46 more
TL;DR: A coordinated and multidisciplinary approach from infancy through adulthood is recommended to improve the care of patients affected by pseudohypoparathyroidism and related disorders.
Journal ArticleDOI
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
Paul van Trotsenburg,Athanasia Stoupa,Juliane Léger,Juliane Léger,Tilman R Rohrer,Catherine Peters,Laura Fugazzola,Alessandra Cassio,Claudine Heinrichs,Véronique Beauloye,Joachim Pohlenz,Patrice Rodien,Régis Coutant,Gabor Szinnai,Philip Murray,Beate Bartés,Dominique Luton,Mariacarolina Salerno,Luisa de Sanctis,Mariacristina Vigone,Heiko Krude,Luca Persani,Michel Polak +22 more
TL;DR: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of congenital hypothyroidism in the light of the most recent evidence.
Journal ArticleDOI
2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism.
Luca Persani,Georg Brabant,Mehul T. Dattani,Marco Bonomi,Ulla Feldt-Rasmussen,Eric Fliers,Annette Grüters,Dominique Maiter,Nadia Schoenmakers,A S Paul van Trotsenburg +9 more
TL;DR: A task force of experts has prepared a list of recommendations supported by variable levels of strength that should improve the quality of life of the affected patients and reduce the metabolic and hormonal consequences of inadequate management.
References
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Update of Newborn Screening and Therapy for Congenital Hypothyroidism
Susan R. Rose,Rosalind S. Brown +1 more
TL;DR: Efforts are ongoing to establish the optimal therapy that leads to maximum potential for normal development for infants with congenital hypothyroidism, as well as to maintain frequent evaluations of total Thyroxine or free thyroxine in the upper half of the reference range during the first 3 years of life.
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