Open Access
Med Sci (Paris)
Volume 37, Number 5, Mai 2021
La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
Page(s) 474 - 481
Section La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
Published online 18 May 2021
  1. GrosseSD, Van VlietG. Prevention of intellectual disability through screening for congenital hypothyroidism : how much and at what level?. Arch Dis Child 2011 ; 96 : 374–379. [CrossRef] [PubMed] [Google Scholar]
  2. LegerJ, EcosseE, RousseyMet al. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening : a longitudinal population-based cohort study. J Clin Endocrinol Metab 2011 ; 96 : 1771–1782. [CrossRef] [PubMed] [Google Scholar]
  3. KnowlesRL, OertonJ, CheethamTet al. Newborn screening for primary congenital hypothyroidism : estimating test performance at different TSH thresholds. J Clin Endocrinol Metab 2018 ; 103 : 3720–3728. [CrossRef] [PubMed] [Google Scholar]
  4. LainS, TrumpffC, GrosseSDet al. Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?. Eur J Endocrinol 2017 ; 177 : D1–D12. [CrossRef] [PubMed] [Google Scholar]
  5. Van Vliet G, Diaz Escagedo P. Redefining congenital hypothyroidism? J Clin Endocrinol Metab 2021; 106 : e1463–5. [CrossRef] [PubMed] [Google Scholar]
  6. LegerJ. Screening for congenital hypothyroidism in France. Misdiagnosed cases : collaborative study of screening centres in France. Eur J Pediatr 1990 ; 149 : 605–607. [CrossRef] [PubMed] [Google Scholar]
  7. McGrathN, HawkesCP, MayneP, MurphyNP. Optimal timing of repeat newborn screening for congenital hypothyroidism in preterm infants to detect delayed thyroid-stimulating hormone elevation. J Pediatr 2019 ; 205 : 77–82. [CrossRef] [PubMed] [Google Scholar]
  8. MeddaE, VigoneMC, CassioAet al. Neonatal screening for congenital hypothyroidism : what can we learn from discordant twins?. J Clin Endocrinol Metab 2019 ; 104 : 5765–5779. [CrossRef] [PubMed] [Google Scholar]
  9. GrobF, Van VlietG. Avoiding the overdiagnosis of congenital hypothyroidism in premature newborns. Pediatrics 2019 ; 144 : e20191706. [CrossRef] [PubMed] [Google Scholar]
  10. PersaniL, BrabantG, DattaniMet al. 2018 European thyroid association (ETA) guidelines on the diagnosis and management of central hypothyroidism. Eur Thyroid J 2018 ; 7 : 225–237. [CrossRef] [PubMed] [Google Scholar]
  11. PetersC, van TrotsenburgASP, SchoenmakersN. DIagnosis of endocrine disease, congenital hypothyroidism: update and perspectives. Eur J Endocrinol 2018 ; 179 : R297–R317. [CrossRef] [PubMed] [Google Scholar]
  12. GaudinoR, GarelC, CzernichowP, LegerJ. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland : a regional cohort study. Clin Endocrinol (Oxf) 2005 ; 62 : 444–448. [CrossRef] [PubMed] [Google Scholar]
  13. LainSJ, BentleyJP, WileyVet al. Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes : a population-based record-linkage study. Lancet Diabetes Endocrinol 2016 ; 4 : 756–765. [CrossRef] [PubMed] [Google Scholar]
  14. West R, Hong J, Derraik JGB, et al. Newborn screening TSH values less than 15 mIU/l are not associated with long-term hypothyroidism or cognitive impairment. J Clin Endocrinol Metab 2020; 105 : e3329–38. [Google Scholar]
  15. LegerJ, OlivieriA, DonaldsonMet al. European society for paediatric endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 2014 ; 99 : 363–384. [CrossRef] [PubMed] [Google Scholar]
  16. AleksanderPE, Bruckner-SpielerM, StoehrAMet al. Mean high-dose l-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. J Clin Endocrinol Metab 2018 ; 103 : 1459–1469. [CrossRef] [PubMed] [Google Scholar]
  17. AlvarezM, Iglesias FernandezC, Rodriguez SanchezAet al. Episodes of overtreatment during the first six months in children with congenital hypothyroidism and their relationships with sustained attention and inhibitory control at school age. Horm Res Paediatr 2010 ; 74 : 114–120. [CrossRef] [PubMed] [Google Scholar]
  18. Garcia Morales L, Rodriguez Arnao MD, Rodriguez Sanchez A, et al. Sustained attention in school-age children with congenital hypothyroidism: Influence of episodes of overtreatment in the first three years of life. Neurologia 2020; 35 : 226–32. [CrossRef] [PubMed] [Google Scholar]
  19. SabaC, Guilmin-CreponS, ZenatyDet al. Early Determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland : a regional cohort study. Thyroid 2018 ; 28 : 959–967. [CrossRef] [PubMed] [Google Scholar]
  20. DufortG, Larrivee-VanierS, EugeneDet al. Wide spectrum of DUOX2 deficiency: From life-threatening compressive goiter in infancy to lifelong euthyroidism. Thyroid 2019 ; 29 : 1018–1022. [CrossRef] [PubMed] [Google Scholar]
  21. AlexanderEK, MarquseeE, LawrenceJet al. Timing and magnitude of increases in levothyroxine requirements during pregnancy in women with hypothyroidism. N Engl J Med 2004 ; 351 : 241–249. [CrossRef] [PubMed] [Google Scholar]
  22. KorevaarTI, MuetzelR, MediciMet al. Association of maternal thyroid function during early pregnancy with offspring IQ and brain morphology in childhood: a population-based prospective cohort study. Lancet Diabetes Endocrinol 2016 ; 4 : 35–43. [CrossRef] [PubMed] [Google Scholar]
  23. LegerJ, dos SantosS, LarroqueB, EcosseE. Pregnancy outcomes and relationship to treatment adequacy in women treated early for congenital hypothyroidism: a longitudinal population-based study. J Clin Endocrinol Metab 2015 ; 100 : 860–869. [CrossRef] [PubMed] [Google Scholar]
  24. LegerJ, ForhanA, Dos SantosSet al. Developmental milestones at one year for the offspring of mothers with congenital hypothyroidism: a population-based study. Eur J Endocrinol 2018 ; 178 : 471–480. [CrossRef] [PubMed] [Google Scholar]
  25. AlexanderEK, PearceEN, BrentGAet al. 2017 Guidelines of the American Thyroid association for the diagnosis and management of thyroid disease during pregnancy and the postpartum. Thyroid 2017 ; 27 : 315–389. [CrossRef] [PubMed] [Google Scholar]
  26. PetersC, BrookeI, HealesSet al. Defining the Newborn blood spot screening reference interval for TSH : impact of ethnicity. J Clin Endocrinol Metab 2016 ; 101 : 3445–3449. [CrossRef] [PubMed] [Google Scholar]
  27. CastanetM, PolakM, Bonaiti-PellieCet al. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001 ; 86 : 2009–2014. [CrossRef] [PubMed] [Google Scholar]
  28. OlivieriA, StaziMA, MastroiacovoPet al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian registry for congenital hypothyroidism (1991–1998). J Clin Endocrinol Metab 2002 ; 87 : 557–562. [PubMed] [Google Scholar]
  29. HarrisKB, PassKA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metabol 2007 ; 91 : 268–277. [Google Scholar]
  30. Barry Y, Bonaldi C, Goulet V, et al. Increased incidence of congenital hypothyroidism in France from 1982 to 2012 : a nationwide multicenter analysis. Ann Epidemiol 2016; 26 : 100–5e1-4. [CrossRef] [PubMed] [Google Scholar]
  31. BarryY GV, CoutantR, CheillanDet al. Hypothyroïdie congenitale en France : analyse des données recueillies lors du dépistage neonatal de 2002 à 2012. Bull Epidemiol Hebd 2015 ; 15–16 : 239. [Google Scholar]
  32. CastanetM, LyonnetS, Bonaiti-PellieCet al. Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. N Engl J Med 2000 ; 343 : 441–442. [CrossRef] [PubMed] [Google Scholar]
  33. LegerJ, MarinovicD, GarelCet al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002 ; 87 : 575–580. [CrossRef] [PubMed] [Google Scholar]
  34. HassaniY, LarroqueB, Dos SantosSet al. Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal population-based cohort study. J Clin Endocrinol Metab 2012 ; 97 : 1897–1904. [CrossRef] [PubMed] [Google Scholar]
  35. DelvecchioM, VigoneMC, WasniewskaMet al. Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study. Ital J Pediatr 2015 ; 41 : 82. [CrossRef] [PubMed] [Google Scholar]
  36. LegerJ. Congenital hypothyroidism: a clinical update of long-term outcome in young adults. Eur J Endocrinol 2015 ; 172 : R67–R77. [CrossRef] [PubMed] [Google Scholar]
  37. Lichtenberger-GeslinL, Dos SantosS, HassaniYet al. Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. J Clin Endocrinol Metab 2013 ; 98 : 3644–3652. [CrossRef] [PubMed] [Google Scholar]
  38. LegerJ, RuizJC, GuibourdencheJet al. Bone mineral density and metabolism in children with congenital hypothyroidism after prolonged L-thyroxine therapy. Acta Paediatr 1997 ; 86 : 704–710. [CrossRef] [PubMed] [Google Scholar]
  39. Van Trotsenburg AS, Stoupa A, Leger J, et al. Congenital hypothyroidism: a 2020 consensus guidelines update an endo-European reference network (ERN) initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology. Thyroid 2021; 31 : 387–419. [CrossRef] [PubMed] [Google Scholar]
  40. FordG, LaFranchiSH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab 2014 ; 28 : 175–187. [CrossRef] [PubMed] [Google Scholar]

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