TY - JOUR
T1 - 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
AU - van Trotsenburg, Paul
AU - Stoupa, Athanasia
AU - Léger, Juliane
AU - Rohrer, Tilman
AU - Peters, Catherine
AU - Fugazzola, Laura
AU - Cassio, Alessandra
AU - Heinrichs, Claudine
AU - Beauloye, Veronique
AU - Pohlenz, Joachim
AU - Rodien, Patrice
AU - Coutant, Regis
AU - Szinnai, Gabor
AU - Murray, Philip
AU - Bartés, Beate
AU - Luton, Dominique
AU - Salerno, Mariacarolina
AU - de Sanctis, Luisa
AU - Vigone, Mariacristina
AU - Krude, Heiko
AU - Persani, Luca
AU - Polak, Michel
N1 - Funding Information: One of the two face-to-face meetings necessary to achieve this study was supported by a grant from the ENDO-ERN. Funding Information: Part of the scientific study performed by A.S. and M.P. in relation to congenital hypothyroidism was financed by grants from EDF, Sandoz SAS Merck Serono France, and nonprofit Princess Grace Foundation of Monaco as well as by French public nonprofit funding agency Programme Hospitalier de Recherche Clinique (ClinicalTrial.gov: NCT01916018, P110120 – IDRCB 2012-A00797-36). A.S. was supported by the European Society for Paediatric Endocrinology Research Fellowship Grant and Alexander S. Onassis Foundation. The financing bodies were not involved in reviewing the content of this article. The remaining authors of the article have no conflicts of interest to declare related to the guideline content. Publisher Copyright: © Paul van Trotsenburg et al., 2021; Published by Mary Ann Liebert, Inc. 2021.
PY - 2021/3/1
Y1 - 2021/3/1
N2 - Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Summary: The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up including laboratory testing to keep thyroid hormone levels in their target ranges, timely assessment of the need to continue treatment, attention for neurodevelopment and neurosensory functions, and, if necessary, consulting other health professionals, and education of the child and family about CH. Harmonization of diagnostics, treatment, and follow-up will optimize patient outcomes. Lastly, all individuals with CH are entitled to a well-planned transition of care from pediatrics to adult medicine. Conclusions: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of CH in the light of the most recent evidence. It should be helpful in convincing health authorities of the benefits of neonatal screening for CH. Further epidemiological and experimental studies are needed to understand the increased incidence of this condition.
AB - Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Summary: The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up including laboratory testing to keep thyroid hormone levels in their target ranges, timely assessment of the need to continue treatment, attention for neurodevelopment and neurosensory functions, and, if necessary, consulting other health professionals, and education of the child and family about CH. Harmonization of diagnostics, treatment, and follow-up will optimize patient outcomes. Lastly, all individuals with CH are entitled to a well-planned transition of care from pediatrics to adult medicine. Conclusions: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of CH in the light of the most recent evidence. It should be helpful in convincing health authorities of the benefits of neonatal screening for CH. Further epidemiological and experimental studies are needed to understand the increased incidence of this condition.
KW - central hypothyroidism
KW - congenital hypothyroidism
KW - dyshormonogenesis
KW - guidelines
KW - neonatal screening
KW - thyroid dysgenesis
UR - http://www.scopus.com/inward/record.url?scp=85102852867&partnerID=8YFLogxK
U2 - https://doi.org/10.1089/thy.2020.0333
DO - https://doi.org/10.1089/thy.2020.0333
M3 - Review article
C2 - 33272083
SN - 1050-7256
VL - 31
SP - 387
EP - 419
JO - Thyroid
JF - Thyroid
IS - 3
ER -