CoChat
Sign Up
Cited by 208Thyroid Disorders and TreatmentsMetabolism and Genetic DisordersThyroid Cancer Diagnosis and Treatment

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

Open access
Léger, Juliane, Olivieri, Antonella, Donaldson, Malcolm, Torresani, Toni, Krude, Heiko, van Vliet, Guy, Polak, Michel, Butler, Gary +1 more·2014·Hormone Research in Paediatrics
DOI 10.1159/000358198
Open this paper in CoChat — free accountOpen PDF

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1159/000358198

Cites

29 of 29 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • In general, cognitive outcomes are normal in patients with early-treated mild or moderate primary congenital hypothyroidism, while developmental problems may occur in patients with severe primary congenital hypothyroidism despite early treatment.

    “In general, cognitive outcomes are normal in patients with early-treated mild or moderate primary CH while developmental problems may occur in patients with severe primary CH, despite early treatment (2, 3, 6, 24).”

    From Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings (2021) · cites this paper as [6]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 119

  1. Grosse SD, Van Vliet G: Prevention of intel- lectual disability through screening for con- genital hypothyroidism: how much and at what level? Arch Dis Child 2011; 96: 374-379.
  2. Pearce MS, McNally RJ, Day J, Korada SM, Turner S, Cheetham TD: Space-time cluster- ing of elevated thyroid stimulating hormone levels. Eur J Epidemiol 2011; 26: 405-411.
  3. Olivieri A, Corbetta C, Weber G, et al: Con- genital hypothyroidism due to defects of thy- roid development and mild increase of TSH at screening: data from the Italian National Registry of Infants with Congenital Hypothy- roidism. J Clin Endocrinol Metab 2013; 98: 1403-1408.
  4. Calaciura F, Motta RM, Miscio G, et al: Sub- clinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hy- perthyrotropinemia. J Clin Endocrinol Metab 2002; 87: 3209-3214.
  5. Rapaport R: Congenital hypothyroidism: an evolving common clinical conundrum. J Clin Endocrinol Metab 2010; 95: 4223-4225.
  6. Swiglo BA, Murad MH, Schünemann HJ, et al: A case for clarity, consistency, and helpful- ness: state-of-the-art clinical practice guide- lines in endocrinology using the grading of recommendations, assessment, development, and evaluation system. J Clin Endocrinol Metab 2008; 93: 666-673.
  7. Rose SR, Brown RS, Foley T, et al: Update of newborn screening and therapy for congeni- tal hypothyroidism. Pediatrics 2006; 117: 2290-2303.
  8. LaFranchi SH: Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab 2011; 96: 2959-2967.
  9. Léger et al. Horm Res Paediatr 2014;81:80-103 DOI: 10.1159/000358198 100 · DOI
  10. Rastogi MV, LaFranchi SH: Congenital hypo- thyroidism. Orphanet J Rare Dis 2010; 5: 17.
  11. Grüters A, Krude H: Detection and treatment of congenital hypothyroidism. Nat Rev Endo- crinol 2012; 8: 104-113.
  12. Chen ZP, Hetzel BS: Cretinism revisited. Best Pract Res Clin Endocrinol Metab 2010; 24: 39- 50.
  13. Gilbert ME, Rovet J, Chen Z, Koibuchi N: De- velopmental thyroid hormone disruption: prevalence, environmental contaminants and neurodevelopmental consequences. Neuro- toxicology 2012; 33: 842-852.
  14. Zimmermann MB, Aeberli I, Torresani T, Bürgi H: Increasing the iodine concentration in the Swiss iodized salt program markedly improved iodine status in pregnant women and children: a 5-y prospective national study. Am J Clin Nutr 2005; 82: 388-392.
  15. LaFranchi SH: Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis 2010; 33:S225-S233.
  16. Klein AH, Agustin AV, Foley TP Jr: Success- ful laboratory screening for congenital hypo- thyroidism. Lancet 1974; 2: 77-79.
  17. Corbetta C, Weber G, Cortinovis F, et al: A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsus- pected frequency of congenital hypothyroid- ism (CH). Clin Endocrinol (Oxf) 2009; 71: 739-745.
  18. Mengreli C, Kanaka-Gantenbein C, Girgin- oudis P, et al: Screening for congenital hypo- thyroidism: the significance of threshold lim- it in false-negative results. J Clin Endocrinol Metab 2010; 95: 4283-4290.
  19. Fisher D: Next generation newborn screening for congenital hypothyroidism? J Clin Endo- crinol Metab 2005; 90: 3797-3799.
  20. Lanting CI, van Tijn DA, Loeber JG, Vulsma T, de Vijlder JJ, Verkerk PH: Clinical effective- ness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening pro- gram. Pediatrics 2005; 116: 168-173.
  21. Nebesio TD, McKenna MP, Nabhan ZM, Eugster EA: Newborn screening results in children with central hypothyroidism. J Pedi- atr 2010; 156: 990-993.
  22. Adams LM, Emery JR, Clark SJ, Carlton EI, Nelson JC: Reference ranges for newer thy- roid function tests in premature infants. J Pe- diatr 1995; 126: 122-127.
  23. Mitchell ML, Walraven C, Rojas DA, McIn- tosh KF, Hermos RJ: Screening very-low- birthweight infants for congenital hypothy- roidism. Lancet 1994; 343: 60-61.
  24. Woo HC, Lizarda A, Tucker R, et al: Congen- ital hypothyroidism with a delayed thyroid- stimulating hormone elevation in very pre- mature infants: incidence and growth and de- velopmental outcomes. J Pediatr 2011; 158: 538-542.
  25. LaFranchi SH, Hanna CE, Krainz PL, Skeels MR, Miyahira RS, Sesser DE: Screening for congenital hypothyroidism with specimen collection at two time periods: results of the Northwest Regional Screening Program. Pe- diatrics 1985; 76: 734-740.
  26. Rapaport R: Evaluation of thyroid status of in- fants in intensive care settings: recommended an extension of newborn screening. J Pediatr 2003; 143: 556-558.
  27. Re RN, Kourides IA, Ridgway EC, Weintraub BD, Maloof F: The effect of glucocorticoid ad- ministration on human pituitary secretion of thyrotropin and prolactin. J Clin Endocrinol Metab 1976; 43: 338-346.
  28. Filippi L, Pezzati M, Poggi C, Rossi S, Cecchi A, Santoro C: Dopamine versus dobutamine in very low birthweight infants: endocrine ef- fects. Arch Dis Child Fetal Neonatal Ed 2007; 92:F367-F371. 32 Fisher DA: Thyroid system immaturities in very low birth weight premature infants. Se- min Perinatol 2008; 32: 387-397.
  29. Williams FL, Ogston SA, van Toor H, Visser TJ, Hume R: Serum thyroid hormones in pre- term infants: associations with postnatal ill- nesses and drug usage. J Clin Endocrinol Metab 2005; 90: 5954-5963.
  30. 5 Golombek SG: Nonthyroidal illness syndrome and euthyroid sick syndrome in intensive care patients. Semin Perinatol 2008; 32: 413-418.
  31. Goldsmit GS, Valdes M, Herzovich V, et al: Evaluation and clinical application of changes in thyroid hormone and TSH levels in criti- cally ill full-term newborns. J Perinat Med 2011; 39: 59-64.
  32. Bongers-Schokking JJ, Schopman W: Thy- roid function in healthy normal, low birth- weight and preterm infants. Eur J Pediatr 1984; 143: 117-122.
  33. LaFranchi S: Thyroid function in the preterm infant. Thyroid 1999; 9: 71-78.
  34. Mäenpää J: Congenital hypothyroidism. Ae- tiological and clinical aspects. Arch Dis Child 1972; 47: 914-923.
  35. Eugster EA, LeMay D, Zerin JM, Pescovitz OH: Definitive diagnosis in children with congenital hypothyroidism. J Pediatr 2004; 144: 643-647.
  36. Krude H, Blankenstein O: Treating patients not numbers: the benefit and burden of low- ering TSH newborn screening cut-offs. Arch Dis Child 2011; 96: 121-122.
  37. Freire C, Ramos R, Amaya E, et al: Newborn TSH concentration and its association with cognitive development in healthy boys. Eur J Endocrinol 2010; 163: 901-909.
  38. Toublanc JE: Guidelines for neonatal screen- ing programs for congenital hypothyroidism. Working Group for Neonatal Screening in Paediatric Endocrinology of the European Society for Paediatric Endocrinology. Acta Paediatr Suppl 1999; 88: 13-14.
  39. Jones JH, Donaldson MD: Audit of initial management of congenital hypothyroidism in the United Kingdom -comparison of UK practice with European and UK guidelines. J Pediatr Endocrinol Metab 2009; 22: 1017- 1025.
  40. Glorieux J, Desjardins M, Letarte J, Morissette J, Dussault JH: Useful parameters to predict the eventual mental outcome of hypothyroid children. Pediatr Res 1988; 24: 6-8.
  41. Mutlu M, Karagüzel G, Alıyaziciolu Y, Eyüpo- lu I, Okten A, Aslan Y: Reference intervals for thyrotropin and thyroid hormones and ultra- sonographic thyroid volume during the neo- natal period. J Matern Fetal Neonatal Med 2012; 25: 120-124.
  42. Schoen EJ, Clapp W, To TT, Fireman BH: The key role of newborn thyroid scintigraphy with isotopic iodide [123I] in defining and manag- ing congenital hypothyroidism. Pediatrics 2004; 114:e683-e688.
  43. Clerc J, Monpeyssen H, Chevalier A, et al: Scintigraphic imaging of paediatric thyroid dysfunction. Horm Res 2008; 70: 1-13.
  44. Szinnai G, Kosugi S, Derrien C, et al: Extend- ing the clinical heterogeneity of iodide trans- port defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and re- view of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab 2006; 91: 1199- 1204.
  45. Bubuteishvili L, Garel C, Czernichow P, Léger J: Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. J Pediatr 2003; 143: 759-764. 101
  46. Karakoc-Aydiner E, Turan S, Akpinar I, et al: Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy. Eur J Endocrinol 2012; 166: 43-48.
  47. Marinovic D, Garel C, Czernichow P, Léger J: Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypo- thyroidism. Pediatr Radiol 2004; 34: 109-113.
  48. Ohnishi H, Sato H, Noda H, Inomata H, Sa- saki N: Color Doppler ultrasonography: diag- nosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. J Clin Endocrinol Metab 2003; 88: 5145-5149.
  49. Jones JH, Attaie M, Maroo S, Neumann D, Perry R, Donaldson MD: Heterogeneous tis- sue in the thyroid fossa on ultrasound in in- fants with proven thyroid ectopia on isotope scan -a diagnostic trap. Pediatr Radiol 2010; 40: 725-731.
  50. Marinovic D, Garel C, Czernichow P, Léger J: Additional phenotypic abnormalities with presence of cysts within the empty thyroid area in patients with congenital hypothyroid- ism with thyroid dysgenesis. J Clin Endocri- nol Metab 2003; 88: 1212-1216.
  51. Gaudino R, Garel C, Czernichow P, Léger J: Proportion of various types of thyroid disor- ders among newborns with congenital hypo- thyroidism and normally located gland: a re- gional cohort study. Clin Endocrinol (Oxf) 2005; 62: 444-448.
  52. Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ: Population study of congen- ital hypothyroidism and associated birth de- fects, Atlanta, 1979-1992. Am J Med Genet 1997; 71: 29-32.
  53. Kumar J, Gordillo R, Kaskel FJ, Druschel CM, Woroniecki RP: Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. J Pediatr 2009; 154: 263-266.
  54. Oakley GA, Muir T, Ray M, Girdwood RW, Kennedy R, Donaldson MD: Increased inci- dence of congenital malformations in chil- dren with transient thyroid-stimulating hor- mone elevation on neonatal screening. J Pedi- atr 1998; 132: 726-730.
  55. Cassio A, Cacciari E, Cicognani A, et al: Treat- ment for congenital hypothyroidism: thyrox- ine alone or thyroxine plus triiodothyronine? Pediatrics 2003; 111: 1055-1060.
  56. von Heppe JH, Krude H, L'Allemand D, Schnabel D, Grüters A: The use of L-T4 as liq- uid solution improves the practicability and individualized dosage in newborns and in- fants with congenital hypothyroidism. J Pedi- atr Endocrinol Metab 2004; 17: 967-974.
  57. DiStefano JJ 3rd, Mak PH: On model and data requirements for determining the bioavail- ability of oral therapeutic agents: application to gut absorption of thyroid hormones. Am J Physiol 1979; 236:R137-R141.
  58. Cassio A, Monti S, Rizzello A, et al: Compari- son between liquid and tablet formulations of levothyroxine in the initial treatment of con- genital hypothyroidism. J Pediatr 2013; 162: 1264-1269.
  59. Carswell JM, Gordon JH, Popovsky E, Hale A, Brown RS: Generic and brand-name L-thy- roxine are not bioequivalent for children with severe congenital hypothyroidism. J Clin En- docrinol Metab 2013; 98: 610-617.
  60. Tau C, Garabedian M, Farriaux JP, Czerni- chow P, Pomarede R, Balsan S: Hypercalce- mia in infants with congenital hypothyroid- ism and its relation to vitamin D and thyroid hormones. J Pediatr 1986; 109: 808-814.
  61. Leger J, Tau C, Garabedian M, Farriaux JP, Czernichow P: Prophylaxis of vitamin D defi- ciency in hypothyroidism in the newborn in- fant (in French). Arch Fr Pediatr 1989; 46: 567-571.
  62. Dimitropoulos A, Molinari L, Etter K, et al: Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. Pediatr Res 2009; 65: 242-248.
  63. Boileau P, Bain P, Rives S, Toublanc JE: Ear- lier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which is the more important factor for IQ at 7 years? Horm Res 2004; 61: 228-233.
  64. Rovet JF, Ehrlich RM: Long-term effects of L- thyroxine therapy for congenital hypothy- roidism. J Pediatr 1995; 126: 380-386.
  65. Kempers MJ, van der Sluijs Veer L, Nijhuis- van der Sanden RW, et al: Neonatal screening for congenital hypothyroidism in The Neth- erlands: cognitive and motor outcome at 10 years of age. J Clin Endocrinol Metab 2007; 92: 919-924.
  66. Glorieux J, Dussault J, Van Vliet G: Intellec- tual development at age 12 years of children with congenital hypothyroidism diagnosed by neonatal screening. J Pediatr 1992; 121: 581-584.
  67. Simons WF, Fuggle PW, Grant DB, Smith I: Intellectual development at 10 years in early treated congenital hypothyroidism. Arch Dis Child 1994; 71: 232-234.
  68. Rovet J, Ehrlich R, Sorbara D: Intellectual out- come in children with fetal hypothyroidism. J Pediatr 1987; 110: 700-704.
  69. Huo K, Zhang Z, Zhao D, et al: Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treat- ment. Endocr J 2011; 58: 355-361.
  70. Selva KA, Harper A, Downs A, Blasco PA, Lafranchi SH: Neurodevelopmental out- comes in congenital hypothyroidism: com- parison of initial T4 dose and time to reach target T4 and TSH. J Pediatr 2005; 147: 775- 780.
  71. Bongers-Schokking JJ, de Muinck Keizer- Schrama SM: Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. J Pediatr 2005; 147: 768-774.
  72. Selva KA, Mandel SH, Rien L, et al: Initial treatment dose of L-thyroxine in congenital hypothyroidism. J Pediatr 2002; 141: 786- 792.
  73. Léger et al. Horm Res Paediatr 2014;81:80-103 DOI: 10.1159/000358198 102 · DOI
  74. Heyerdahl S, Oerbeck B: Congenital hypo- thyroidism: developmental outcome in re- lation to levothyroxine treatment variables. Thyroid 2003; 13: 1029-1038.
  75. Vogiatzi MG, Kirkland JL: Frequency and necessity of thyroid function tests in neo- nates and infants with congenital hypothy- roidism. Pediatrics 1997; 100:E6.
  76. Mathai S, Cutfield WS, Gunn AJ, et al: A novel therapeutic paradigm to treat con- genital hypothyroidism. Clin Endocrinol (Oxf) 2008; 69: 142-147.
  77. Balhara B, Misra M, Levitsky LL: Clinical monitoring guidelines for congenital hypo- thyroidism: laboratory outcome data in the first year of life. J Pediatr 2011; 158: 532-537.
  78. Penfold JL, Simpson DA: Premature cranio- synostosis -a complication of thyroid replace- ment therapy. J Pediatr 1975; 86: 360-363.
  79. Flynn RW, Bonellie SR, Jung RT, MacDon- ald TM, Morris AD, Leese GP: Serum thy- roid-stimulating hormone concentration and morbidity from cardiovascular disease and fractures in patients on long-term thy- roxine therapy. J Clin Endocrinol Metab 2010; 95: 186-193. 100
  80. Raghavan S, DiMartino-Nardi J, Saenger P, Linder B: Pseudotumor cerebri in an infant after L-thyroxine therapy for transient neo- natal hypothyroidism. J Pediatr 1997; 130: 478-480. 101
  81. Aydin A, Cemeroglu AP, Baklan B: Thyrox- ine-induced hypermotor seizure. Seizure 2004; 13: 61-65. 102
  82. Tenenbaum-Rakover Y, Grasberger H, Ma- manasiri S, et al: Loss-of-function muta- tions in the thyrotropin receptor gene as a major determinant of hyperthyrotropin- emia in a consanguineous community. J Clin Endocrinol Metab 2009; 94: 1706-1712. 103
  83. Rabbiosi S, Vigone MC, Cortinovis F, et al: Congenital hypothyroidism with eutopic thy- roid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab 2013; 98: 1395-1402. 104
  84. Moreno JC, Bikker H, Kempers MJ, et al: In- activating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypo- thyroidism. N Engl J Med 2002; 347: 95-102. 105 Moreno JC, Visser TJ: New phenotypes in thyroid dyshormonogenesis: hypothyroid- ism due to DUOX2 mutations. Endocr Dev 2007; 10: 99-117. 106
  85. Parazzini C, Baldoli C, Scotti G, Triulzi F: Terminal zones of myelination: MR evalua- tion of children aged 20-40 months. AJNR Am J Neuroradiol 2002; 23: 1669-1673. 107
  86. Abalovich M, Amino N, Barbour LA, et al: Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2007; 92:S1-S47. 108
  87. De Groot L, Abalovich M, Alexander EK, et al: Management of thyroid dysfunction during pregnancy and postpartum: an En- docrine Society clinical practice guideline. J Clin Endocrinol Metab 2012; 97: 2543-2565. 110
  88. Rovet JF, Ehrlich R: Psychoeducational out- come in children with early-treated congen- ital hypothyroidism. Pediatrics 2000; 105: 515-522. 111 Rovet JF: Children with congenital hypo- thyroidism and their siblings: do they really differ? Pediatrics 2005; 115:e52-e57. 112
  89. Léger J, Larroque B, Norton J: Influence of severity of congenital hypothyroidism and adequacy of treatment on school achieve- ment in young adolescents: a population- based cohort study. Acta Paediatr 2001; 90: 1249-1256. 113
  90. Rovet J, Alvarez M: Thyroid hormone and attention in school-age children with con- genital hypothyroidism. J Child Psychol Psychiatry 1996; 37: 579-585. 115
  91. Alvarez M, Iglesias Fernández C, Rodríguez Sánchez A, Dulín Lñiguez E, Rodríguez Ar- nao MD: Episodes of overtreatment during the first six months in children with con- genital hypothyroidism and their relation- ships with sustained attention and inhibi- tory control at school age. Horm Res Paedi- atr 2010; 74: 114-120. 116
  92. Oerbeck B, Reinvang I, Sundet K, Heyer- dahl S: Young adults with severe congenital hypothyroidism: cognitive event related po- tentials (ERPs) and the significance of an early start of thyroxine treatment. Scand J Psychol 2007; 48: 61-67. 117
  93. Wheeler SM, Willoughby KA, McAndrews MP, Rovet JF: Hippocampal size and mem- ory functioning in children and adolescents with congenital hypothyroidism. J Clin En- docrinol Metab 2011; 96:E1427-E1434. 118
  94. Hauri-Hohl A, Dusoczky N, Dimitropoulos A, et al: Impaired neuromotor outcome in school-age children with congenital hypo- thyroidism receiving early high-dose sub- stitution treatment. Pediatr Res 2011; 70: 614-618. 119
  95. Bess FH, Dodd-Murphy J, Parker RA: Chil- dren with minimal sensorineural hearing loss: prevalence, educational performance, and functional status. Ear Hear 1998; 19: 339-354. 120
  96. François M, Bonfils P, Leger J, Czernichow P, Narcy P: Role of congenital hypothyroid- ism in hearing loss in children. J Pediatr 1994; 124: 444-446. 121
  97. Sato H, Nakamura N, Harada S, Kakee N, Sasaki N: Quality of life of young adults with congenital hypothyroidism. Pediatr Int 2009; 51: 126-131. 124
  98. Kemper AR, Ouyang L, Grosse SD: Discon- tinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data. BMC Pediatr 2010; 10: 9. 125
  99. Delvecchio M, Salerno M, Acquafredda A, et al: Factors predicting final height in early treated congenital hypothyroid patients. Clin Endocrinol (Oxf) 2006; 65: 693-697. 126
  100. Bucher H, Prader A, Illig R: Head circumfer- ence, height, bone age and weight in 103 children with congenital hypothyroidism before and during thyroid hormone replace- ment. Helv Paediatr Acta 1985; 40: 305-316. 128
  101. Leger J, Ruiz JC, Guibourdenche J, Kinder- mans C, Garabedian M, Czernichow P: Bone mineral density and metabolism in children with congenital hypothyroidism after prolonged L-thyroxine therapy. Acta Paediatr 1997; 86: 704-710. 131
  102. Salerno M, Lettiero T, Esposito-del Puente A, et al: Effect of long-term L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism. Eur J Endocrinol 2004; 151: 689-694. 132
  103. Grasberger H, Refetoff S: Genetic causes of congenital hypothyroidism due to dyshor- monogenesis. Curr Opin Pediatr 2011; 23: 421-428. 134
  104. Castanet M, Lyonnet S, Bonaïti-Pellié C, Polak M, Czernichow P, Léger J: Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. N Engl J Med 2000; 343: 441-442. 136
  105. Perry R, Heinrichs C, Bourdoux P, et al: Discordance of monozygotic twins for thy- roid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 2002; 87: 4072-4077. 137
  106. Léger J, Marinovic D, Garel C, Bonaïti-Pel- lié C, Polak M, Czernichow P: Thyroid de- velopmental anomalies in first degree rela- tives of children with congenital hypothy- roidism. J Clin Endocrinol Metab 2002; 87: 575-580. 138
  107. Park SM, Chatterjee VK: Genetics of con- genital hypothyroidism. J Med Genet 2005; 42: 379-389. 139
  108. Krude H, Schütz B, Biebermann H, et al: Choreoathetosis, hypothyroidism, and pul- monary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002; 109: 475-480. 140
  109. Pohlenz J, Dumitrescu A, Zundel D, et al: Partial deficiency of thyroid transcription factor 1 produces predominantly neurolog- ical defects in humans and mice. J Clin In- vest 2002; 109: 469-473. 141
  110. Castanet M, Mallya U, Agostini M, et al: Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypo- thyroidism. J Clin Endocrinol Metab 2010; 95: 4031-4036. 142
  111. Macchia PE, Lapi P, Krude H, et al: PAX8 mutations associated with congenital hypo- thyroidism caused by thyroid dysgenesis. Nat Genet 1998; 19: 83-86. 143
  112. Bizhanova A, Kopp P: Genetics and phe- nomics of Pendred syndrome. Mol Cell En- docrinol 2010; 322: 83-90. 144
  113. Hishinuma A, Fukata S, Kakudo K, Murata Y, Ieiri T: High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 2005; 15: 1079-1084. 145 Mantovani G: Clinical review: pseudohypo- parathyroidism: diagnosis and treatment. J Clin Endocrinol Metab 2011; 96: 3020-3030. 146
  114. Ranzini AC, Ananth CV, Smulian JC, Kung M, Limbachia A, Vintzileos AM: Ultraso- nography of the fetal thyroid: nomograms based on biparietal diameter and gestation- al age. J Ultrasound Med 2001; 20: 613-617. 147
  115. Ribault V, Castanet M, Bertrand AM, et al: Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hy- pothyroidism in 12 cases. J Clin Endocrinol Metab 2009; 94: 3731-3739. 148
  116. Thorpe-Beeston JG, Nicolaides KH, Mc- Gregor AM: Fetal thyroid function. Thy- roid 1992; 2: 207-217. 149
  117. Huel C, Guibourdenche J, Vuillard E, et al: Use of ultrasound to distinguish between fe- tal hyperthyroidism and hypothyroidism on discovery of a goiter. Ultrasound Obstet Gynecol 2009; 33: 412-420. 150 Rodriguez MH: Polyhydramnios: does re- ducing the amniotic fluid volume decrease the incidence of prematurity? Clin Perina- tol 1992; 19: 359-366. 151
  118. Polak M, Van Vliet G: Therapeutic ap- proach of fetal thyroid disorders. Horm Res Paediatr 2010; 74: 1-5. 152
  119. Stoppa-Vaucher S, Francoeur D, Grignon A, et al: Non-immune goiter and hypothy- roidism in a 19-week fetus: a plea for con- servative treatment. J Pediatr 2010; 156: 1026-1029.

Cited by

Sorted by citations

Authors
Léger, J., Olivieri, A., Donaldson, M., Torresani, T., Krude, H., van Vliet, G., Polak, M., Butler, G., & on behalf of ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, A. T. C. H. C. C. G.
Affiliations
  • Inserm (FR)
  • Istituto Superiore di Sanità (IT)
  • Royal Hospital for Children (GB)
  • University Children's Hospital Zurich (CH)
  • Stiftung Charité (DE)
  • Hôpital Necker-Enfants Malades (FR)
  • University College Hospital (GB)
ORCID
Venue
Hormone Research in Paediatrics
Publisher
S. Karger AG
Published
2014
Volume
81
Issue
2
Pages
80-103
ISSN
  • 1663-2818 (ISSN-L)
  • 1663-2826
DOI
10.1159/000358198
OpenAlex
W4251049851
Cited by
208
References
29
Citations by year
2026: 6 · 2025: 10 · 2024: 9 · 2023: 15 · 2022: 20 · 2021: 35 · 2020: 18 · 2019: 27 · 2018: 20 · 2017: 18 · 2016: 18 · 2015: 9 · 2014: 3
FWCI
12.88
Type
journal article
Language
en
Open access
Licence
Locations
  • Hormone Research in Paediatrics (publishedVersion)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
  • Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
Funders
  • European Society for Paediatric Endocrinology
  • Istituto Superiore di Sanità
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Cancer Diagnosis and Treatment
Keywords
congenital hypothyroidism, newborn screening, transient hypothyroidism, developmental assessment, diagnosis and management

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review