European society for paediatric endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism

Hormone Research in Paediatrics

Volumn 81, Issue 2, 2014, Pages 80-103

  Léger, Juliane ^a,b,c   Olivieri, Antonella ^d   Donaldson, Malcolm ^e   Torresani, Toni ^f   Krude, Heiko ^g   Van Vliet, Guy ^h   Polak, Michel ⁱ   Butler, Gary ^j,k  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c INSERM   (France)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h UNIVERSITY OF MONTREAL   (Canada)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^k ROYAL LONDON HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN; THYROXINE; PERCHLORATE; THYROID HORMONE; THYROMIMETIC AGENT;

ARTICLE; BONE; CARDIOVASCULAR SYSTEM; CONGENITAL HYPOTHYROIDISM; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG MONITORING; ECHOGRAPHY; EVIDENCE BASED PRACTICE; FERTILITY; FOLLOW UP; GENETIC COUNSELING; GROWTH; HUMAN; METABOLISM; MOLECULAR BIOLOGY; NEWBORN SCREENING; PATIENT COMPLIANCE; PATIENT EDUCATION; PEDIATRICS; PRACTICE GUIDELINE; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PUBERTY; QUALITY OF LIFE; RISK FACTOR; THYROID FUNCTION TEST; THYROTROPIN BLOOD LEVEL; TREATMENT OUTCOME; CHILD GROWTH; CLINICAL DECISION MAKING; CLINICAL EFFECTIVENESS; CLINICAL EVALUATION; CONSENSUS; DIAGNOSTIC IMAGING; ENDOCRINOLOGY; EUTHYROIDISM; FREE THYROXINE INDEX; HEALTH PRACTITIONER; MEDICAL EDUCATION; MEDICAL EXPERT; MEDICAL INFORMATION; MEDICAL SOCIETY; PATIENT MONITORING; REVIEW; SUPPLEMENTATION; SYSTEMATIC REVIEW; THYROID SCINTISCANNING; BLOOD; DOSE RESPONSE; EUROPE; NEWBORN; SEVERITY OF ILLNESS INDEX; STANDARDS;

CONGENITAL HYPOTHYROIDISM; DOSE-RESPONSE RELATIONSHIP, DRUG; ENDOCRINOLOGY; EUROPE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PATIENT EDUCATION AS TOPIC; PEDIATRICS; SEVERITY OF ILLNESS INDEX; SOCIETIES, MEDICAL; THYROID HORMONES; THYROXINE;

EID: 84897032935     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000358198     Document Type: Article

References (152)

1. Grosse SD, Van Vliet G: Prevention of intellectual disability through screening for congenital 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 clustering of elevated thyroid stimulating hormone levels. Eur J Epidemiol 2011; 26: 405-411.
3. Deladoey J, Ruel J, Giguere Y, Van Vliet G: Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Quebec. J Clin Endocrinol Metab 2011; 96: 2422-2429.
4. Olivieri A, Corbetta C, Weber G, et al: Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: data from the Italian National Registry of Infants with Congenital Hypothyroidism. J Clin Endocrinol Metab 2013; 98: 1403-1408.
5. Calaciura F, Motta RM, Miscio G, et al: Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. J Clin Endocrinol Metab 2002; 87: 3209-3214.
6. Rapaport R: Congenital hypothyroidism: an evolving common clinical conundrum. J Clin Endocrinol Metab 2010; 95: 4223-4225.
7. Swiglo BA, Murad MH, Schunemann HJ, et al: A case for clarity, consistency, and helpfulness: state-of-the-art clinical practice guidelines in endocrinology using the grading of recommendations, assessment, development, and evaluation system. J Clin Endocrinol Metab 2008; 93: 666-673.
8. Rose SR, Brown RS, Foley T, et al: Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006; 117: 2290-2303.
9. LaFranchi SH: Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab 2011; 96: 2959-2967.
10. Zoeller RT, Rovet J: Timing of thyroid hormone action in the developing brain: clinical observations and experimental findings. J Neuroendocrinol 2004; 16: 809-818.
11. Geelhoed EA, Lewis B, Hounsome D, O'leary P: Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. J Paediatr Child Health 2005; 41: 575-579.
12. Rastogi MV, LaFranchi SH: Congenital hypothyroidism. Orphanet J Rare Dis 2010; 5: 17.
13. Gruters A, Krude H: Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol 2012; 8: 104-113.
14. Chen ZP, Hetzel BS: Cretinism revisited. Best Pract Res Clin Endocrinol Metab 2010; 24: 39- 50.
15. Gilbert ME, Rovet J, Chen Z, Koibuchi N: Developmental thyroid hormone disruption: prevalence, environmental contaminants and neurodevelopmental consequences. Neurotoxicology 2012; 33: 842-852.
16. Zimmermann MB, Aeberli I, Torresani T, Burgi 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.
17. LaFranchi SH: Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis 2010; 33:S225-S233.
18. Klein AH, Agustin AV, Foley TP Jr: Successful laboratory screening for congenital hypothyroidism. Lancet 1974; 2: 77-79.
19. Corbetta C, Weber G, Cortinovis F, et al: A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf) 2009; 71: 739-745.
20. Mengreli C, Kanaka-Gantenbein C, Girginoudis P, et al: Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. J Clin Endocrinol Metab 2010; 95: 4283-4290.
21. van Tijn DA, de Vijlder JJ, Verbeeten B Jr, Verkerk PH, Vulsma T: Neonatal detection of congenital hypothyroidism of central origin. J Clin Endocrinol Metab 2005; 90: 3350-3359.
22. Fisher D: Next generation newborn screening for congenital hypothyroidism? J Clin Endocrinol Metab 2005; 90: 3797-3799.
23. Lanting CI, van Tijn DA, Loeber JG, Vulsma T, de Vijlder JJ, Verkerk PH: Clinical effectiveness 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 program. Pediatrics 2005; 116: 168-173.
24. Nebesio TD, McKenna MP, Nabhan ZM, Eugster EA: Newborn screening results in children with central hypothyroidism. J Pediatr 2010; 156: 990-993.
25. Adams LM, Emery JR, Clark SJ, Carlton EI, Nelson JC: Reference ranges for newer thyroid function tests in premature infants. J Pediatr 1995; 126: 122-127.
26. Mitchell ML, Walraven C, Rojas DA, McIntosh KF, Hermos RJ: Screening very-lowbirthweight infants for congenital hypothyroidism. Lancet 1994; 343: 60-61.
27. Woo HC, Lizarda A, Tucker R, et al: Congenital hypothyroidism with a delayed thyroidstimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes. J Pediatr 2011; 158: 538-542.
28. 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. Pediatrics 1985; 76: 734-740.
29. Rapaport R: Evaluation of thyroid status of infants in intensive care settings: recommended an extension of newborn screening. J Pediatr 2003; 143: 556-558.
30. Re RN, Kourides IA, Ridgway EC, Weintraub BD, Maloof F: The effect of glucocorticoid administration on human pituitary secretion of thyrotropin and prolactin. J Clin Endocrinol Metab 1976; 43: 338-346.
31. Filippi L, Pezzati M, Poggi C, Rossi S, Cecchi A, Santoro C: Dopamine versus dobutamine in very low birthweight infants: endocrine effects. Arch Dis Child Fetal Neonatal Ed 2007; 92:F367-F371.
32. Fisher DA: Thyroid system immaturities in very low birth weight premature infants. Semin Perinatol 2008; 32: 387-397.
33. Olivieri A, Medda E, De Angelis S, et al: High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab 2007; 92: 3141-3147.
34. Williams FL, Ogston SA, van Toor H, Visser TJ, Hume R: Serum thyroid hormones in preterm infants: associations with postnatal illnesses and drug usage. J Clin Endocrinol Metab 2005; 90: 5954-5963.
35. Golombek SG: Nonthyroidal illness syndrome and euthyroid sick syndrome in intensive care patients. Semin Perinatol 2008; 32: 413-418.
36. Goldsmit GS, Valdes M, Herzovich V, et al: Evaluation and clinical application of changes in thyroid hormone and TSH levels in critically ill full-term newborns. J Perinat Med 2011; 39: 59-64.
37. Bongers-Schokking JJ, Schopman W: Thyroid function in healthy normal, low birthweight and preterm infants. Eur J Pediatr 1984; 143: 117-122.
38. LaFranchi S: Thyroid function in the preterm infant. Thyroid 1999; 9: 71-78.
39. Maenpaa J: Congenital hypothyroidism. Aetiological and clinical aspects. Arch Dis Child 1972; 47: 914-923.
40. Spencer CA, LoPresti JS, Patel A, et al: Applications of a new chemiluminometric thyrotropin assay to subnormal measurement. J Clin Endocrinol Metab 1990; 70: 453-460.
41. Eugster EA, LeMay D, Zerin JM, Pescovitz OH: Definitive diagnosis in children with congenital hypothyroidism. J Pediatr 2004; 144: 643-647.
42. Krude H, Blankenstein O: Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs. Arch Dis Child 2011; 96: 121-122.
43. 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.
44. Toublanc JE: Guidelines for neonatal screening 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.
45. 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.
46. Leger J, Ecosse E, Roussey M, Lanoe JL, Larroque B: 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.
47. 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.
48. Wasniewska M, De Luca F, Cassio A, et al: In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first year of life irrespective of other variables related to treatment. Eur J Endocrinol 2003; 149: 1-6.
49. Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB: Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. BMJ 1994; 309: 440-445.
50. Mutlu M, Karaguzel G, Aliyaziciolu Y, Eyupolu I, Okten A, Aslan Y: Reference intervals for thyrotropin and thyroid hormones and ultrasonographic thyroid volume during the neonatal period. J Matern Fetal Neonatal Med 2012; 25: 120-124.
51. Schoen EJ, Clapp W, To TT, Fireman BH: The key role of newborn thyroid scintigraphy with isotopic iodide [123I] in defining and managing congenital hypothyroidism. Pediatrics 2004; 114:e683-e688.
52. Clerc J, Monpeyssen H, Chevalier A, et al: Scintigraphic imaging of paediatric thyroid dysfunction. Horm Res 2008; 70: 1-13.
53. Szinnai G, Kosugi S, Derrien C, et al: Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab 2006; 91: 1199- 1204.
54. Bubuteishvili L, Garel C, Czernichow P, Leger J: Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. J Pediatr 2003; 143: 759-764.
55. 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.
56. Marinovic D, Garel C, Czernichow P, Leger J: Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypothyroidism. Pediatr Radiol 2004; 34: 109-113.
57. Ohnishi H, Sato H, Noda H, Inomata H, Sasaki N: Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. J Clin Endocrinol Metab 2003; 88: 5145-5149.
58. Jones JH, Attaie M, Maroo S, Neumann D, Perry R, Donaldson MD: Heterogeneous tissue in the thyroid fossa on ultrasound in infants with proven thyroid ectopia on isotope scan - a diagnostic trap. Pediatr Radiol 2010; 40: 725-731.
59. Marinovic D, Garel C, Czernichow P, Leger J: Additional phenotypic abnormalities with presence of cysts within the empty thyroid area in patients with congenital hypothyroidism with thyroid dysgenesis. J Clin Endocrinol Metab 2003; 88: 1212-1216.
60. Gaudino R, Garel C, Czernichow P, Leger J: 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.
61. Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J: 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.
62. Olivieri A, Stazi MA, Mastroiacovo P, et 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.
63. Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ: Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet 1997; 71: 29-32.
64. Azar-Kolakez A, Ecosse E, Dos Santos S, Leger J: All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. J Clin Endocrinol Metab 2013; 98: 785-793.
65. 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.
66. Oakley GA, Muir T, Ray M, Girdwood RW, Kennedy R, Donaldson MD: Increased incidence of congenital malformations in children with transient thyroid-stimulating hormone elevation on neonatal screening. J Pediatr 1998; 132: 726-730.
67. van Trotsenburg AS, Vulsma T, van Santen HM, Cheung W, de Vijlder JJ: Lower neonatal screening thyroxine concentrations in Down syndrome newborns. J Clin Endocrinol Metab 2003; 88: 1512-1515.
68. Cassio A, Cacciari E, Cicognani A, et al: Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine? Pediatrics 2003; 111: 1055-1060.
69. Grozinsky-Glasberg S, Fraser A, Nahshoni E, Weizman A, Leibovici L: Thyroxine-triiodothyronine combination therapy versus thyroxine monotherapy for clinical hypothyroidism: meta-analysis of randomized controlled trials. J Clin Endocrinol Metab 2006; 91: 2592- 2599.
70. von Heppe JH, Krude H, L'Allemand D, Schnabel D, Gruters A: The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism. J Pediatr Endocrinol Metab 2004; 17: 967-974.
71. DiStefano JJ, Mak PH: On model and data requirements for determining the bioavailability of oral therapeutic agents: application to gut absorption of thyroid hormones. Am J Physiol 1979; 236:R137-R141.
72. Fish LH, Schwartz HL, Cavanaugh J, Steffes MW, Bantle JP, Oppenheimer JH: Replacement dose, metabolism, and bioavailability of levothyroxine in the treatment of hypothyroidism. Role of triiodothyronine in pituitary feedback in humans. N Engl J Med 1987; 316: 764-770.
73. Cassio A, Monti S, Rizzello A, et al: Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. J Pediatr 2013; 162: 1264-1269.
74. Carswell JM, Gordon JH, Popovsky E, Hale A, Brown RS: Generic and brand-name L-thyroxine are not bioequivalent for children with severe congenital hypothyroidism. J Clin Endocrinol Metab 2013; 98: 610-617.
75. Tau C, Garabedian M, Farriaux JP, Czernichow P, Pomarede R, Balsan S: Hypercalcemia in infants with congenital hypothyroidism and its relation to vitamin D and thyroid hormones. J Pediatr 1986; 109: 808-814.
76. Leger J, Tau C, Garabedian M, Farriaux JP, Czernichow P: Prophylaxis of vitamin D deficiency in hypothyroidism in the newborn infant (in French). Arch Fr Pediatr 1989; 46: 567-571.
77. Bolk N, Visser TJ, Nijman J, Jongste IJ, Tijssen JG, Berghout A: Effects of evening vs morning levothyroxine intake: a randomized doubleblind crossover trial. Arch Intern Med 2010; 170: 1996-2003.
78. 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.
79. Boileau P, Bain P, Rives S, Toublanc JE: Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which is the more important factor for IQ at years? Horm Res 2004; 61: 228-233.
80. Gruters A, Liesenkotter KP, Zapico M, et al: Results of the screening program for congenital hypothyroidism in Berlin (1978-1995). Exp Clin Endocrinol Diabetes 1997; 105(suppl 4):28-31.
81. Rovet JF, Ehrlich RM: Long-term effects of Lthyroxine therapy for congenital hypothyroidism. J Pediatr 1995; 126: 380-386.
82. Kempers MJ, van der Sluijs Veer L, Nijhuisvan der Sanden RW, et al: Neonatal screening for congenital hypothyroidism in The Netherlands: cognitive and motor outcome at 10 years of age. J Clin Endocrinol Metab 2007; 92: 919-924.
83. Glorieux J, Dussault J, Van Vliet G: Intellectual development at age 12 years of children with congenital hypothyroidism diagnosed by neonatal screening. J Pediatr 1992; 121: 581-584.
84. 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.
85. Rovet J, Ehrlich R, Sorbara D: Intellectual outcome in children with fetal hypothyroidism. J Pediatr 1987; 110: 700-704.
86. Kempers MJ, van der Sluijs Veer L, Nijhuisvan der Sanden MW, et al: Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab 2006; 91: 418-424.
87. Huo K, Zhang Z, Zhao D, et al: Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment. Endocr J 2011; 58: 355-361.
88. Salerno M, Militerni R, Bravaccio C, et al: Effect of different starting doses of levothyroxine on growth and intellectual outcome at four years of age in congenital hypothyroidism. Thyroid 2002; 12: 45-52.
89. Simoneau-Roy J, Marti S, Deal C, Huot C, Robaey P, Van Vliet G: Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. J Pediatr 2004; 144: 747-752.
90. Selva KA, Harper A, Downs A, Blasco PA, Lafranchi SH: Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH. J Pediatr 2005; 147: 775- 780.
91. 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.
92. Selva KA, Mandel SH, Rien L, et al: Initial treatment dose of L-thyroxine in congenital hypothyroidism. J Pediatr 2002; 141: 786- 792.
93. Heyerdahl S, Oerbeck B: Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables. Thyroid 2003; 13: 1029-1038.
94. Vogiatzi MG, Kirkland JL: Frequency and necessity of thyroid function tests in neonates and infants with congenital hypothyroidism. Pediatrics 1997; 100:E6.
95. Mathai S, Cutfield WS, Gunn AJ, et al: A novel therapeutic paradigm to treat congenital hypothyroidism. Clin Endocrinol (Oxf) 2008; 69: 142-147.
96. Balhara B, Misra M, Levitsky LL: Clinical monitoring guidelines for congenital hypothyroidism: laboratory outcome data in the first year of life. J Pediatr 2011; 158: 532-537.
97. Penfold JL, Simpson DA: Premature craniosynostosis - a complication of thyroid replacement therapy. J Pediatr 1975; 86: 360-363.
98. Salerno M, Oliviero U, Lettiero T, et al: Long-term cardiovascular effects of levothyroxine therapy in young adults with congenital hypothyroidism. J Clin Endocrinol Metab 2008; 93: 2486-2491.
99. Flynn RW, Bonellie SR, Jung RT, MacDonald TM, Morris AD, Leese GP: Serum thyroid- stimulating hormone concentration and morbidity from cardiovascular disease and fractures in patients on long-term thyroxine therapy. J Clin Endocrinol Metab 2010; 95: 186-193.
100. Raghavan S, DiMartino-Nardi J, Saenger P, Linder B: Pseudotumor cerebri in an infant after L-thyroxine therapy for transient neonatal hypothyroidism. J Pediatr 1997; 130: 478-480.
101. Aydin A, Cemeroglu AP, Baklan B: Thyroxine- induced hypermotor seizure. Seizure 2004; 13: 61-65.
102. Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, et al: Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab 2009; 94: 1706-1712.
103. Rabbiosi S, Vigone MC, Cortinovis F, et al: Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab 2013; 98: 1395-1402.
104. Moreno JC, Bikker H, Kempers MJ, et al: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002; 347: 95-102.
105. Moreno JC, Visser TJ: New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. Endocr Dev 2007; 10: 99-117.
106. Parazzini C, Baldoli C, Scotti G, Triulzi F: Terminal zones of myelination: MR evaluation of children aged 20-40 months. AJNR Am J Neuroradiol 2002; 23: 1669-1673.
107. 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. Stagnaro-Green A, Abalovich M, Alexander E, et al: Guidelines of the American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and postpartum. Thyroid 2011; 21: 1081- 1125.
109. De Groot L, Abalovich M, Alexander EK, et al: Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2012; 97: 2543-2565.
110. Rovet JF, Ehrlich R: Psychoeducational outcome in children with early-treated congenital hypothyroidism. Pediatrics 2000; 105: 515-522.
111. Rovet JF: Children with congenital hypothyroidism and their siblings: do they really differ? Pediatrics 2005; 115:e52-e57.
112. Leger J, Larroque B, Norton J: Influence of severity of congenital hypothyroidism and adequacy of treatment on school achievement in young adolescents: a populationbased cohort study. Acta Paediatr 2001; 90: 1249-1256.
113. Bisacchi N, Bal MO, Nardi L, et al: Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions. Eur J Endocrinol 2011; 164: 269-276.
114. Rovet J, Alvarez M: Thyroid hormone and attention in school-age children with congenital hypothyroidism. J Child Psychol Psychiatry 1996; 37: 579-585.
115. Alvarez M, Iglesias Fernandez C, Rodriguez Sanchez A, Dulin Lniguez E, Rodriguez Arnao MD: 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.
116. Oerbeck B, Reinvang I, Sundet K, Heyerdahl S: Young adults with severe congenital hypothyroidism: cognitive event related potentials (ERPs) and the significance of an early start of thyroxine treatment. Scand J Psychol 2007; 48: 61-67.
117. Wheeler SM, Willoughby KA, McAndrews MP, Rovet JF: Hippocampal size and memory functioning in children and adolescents with congenital hypothyroidism. J Clin Endocrinol Metab 2011; 96:E1427-E1434.
118. Hauri-Hohl A, Dusoczky N, Dimitropoulos A, et al: Impaired neuromotor outcome in school-age children with congenital hypothyroidism receiving early high-dose substitution treatment. Pediatr Res 2011; 70: 614-618.
119. Bess FH, Dodd-Murphy J, Parker RA: Children with minimal sensorineural hearing loss: prevalence, educational performance, and functional status. Ear Hear 1998; 19: 339-354.
120. Francois M, Bonfils P, Leger J, Czernichow P, Narcy P: Role of congenital hypothyroidism in hearing loss in children. J Pediatr 1994; 124: 444-446.
121. Rovet J, Walker W, Bliss B, Buchanan L, Ehrlich R: Long-term sequelae of hearing impairment in congenital hypothyroidism. J Pediatr 1996; 128: 776-783.
122. van der Sluijs Veer L, Kempers MJ, Last BF, Vulsma T, Grootenhuis MA: Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab 2008; 93: 2654-2661.
123. 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. Kemper AR, Ouyang L, Grosse SD: Discontinuation 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. 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. Livadas S, Magiakou MA, Mengreli C, et al: Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents. Horm Metab Res 2007; 39: 524-528.
127. Bucher H, Prader A, Illig R: Head circumference, height, bone age and weight in 103 children with congenital hypothyroidism before and during thyroid hormone replacement. Helv Paediatr Acta 1985; 40: 305-316.
128. Salerno M, Micillo M, Di Maio S, et al: Longitudinal growth, sexual maturation and final height in patients with congenital hypothyroidism detected by neonatal screening. Eur J Endocrinol 2001; 145: 377-383.
129. Hassani Y, Larroque B, Dos Santos S, Ecosse E, Bouyer J, Leger J: Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal populationbased cohort study. J Clin Endocrinol Metab 2012; 97: 1897-1904.
130. Leger J, Ruiz JC, Guibourdenche J, Kindermans 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. 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. Oliviero U, Cittadini A, Bosso G, et al: Effects of long-term L-thyroxine treatment on endothelial function and arterial distensibility in young adults with congenital hypothyroidism. Eur J Endocrinol 2010; 162: 289-294.
133. Grasberger H, Refetoff S: Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr 2011; 23: 421-428.
134. Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G: A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab 1999; 84: 2502-2506.
135. Castanet M, Lyonnet S, Bonaiti-Pellie C, Polak M, Czernichow P, Leger J: Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. N Engl J Med 2000; 343: 441-442.
136. Perry R, Heinrichs C, Bourdoux P, et al: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 2002; 87: 4072-4077.
137. Leger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, Czernichow P: Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002; 87: 575-580.
138. Park SM, Chatterjee VK: Genetics of congenital hypothyroidism. J Med Genet 2005; 42: 379-389.
139. Krude H, Schutz B, Biebermann H, et al: Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002; 109: 475-480.
140. Pohlenz J, Dumitrescu A, Zundel D, et al: Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002; 109: 469-473.
141. Castanet M, Mallya U, Agostini M, et al: Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. J Clin Endocrinol Metab 2010; 95: 4031-4036.
142. Macchia PE, Lapi P, Krude H, et al: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998; 19: 83-86.
143. Bizhanova A, Kopp P: Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol 2010; 322: 83-90.
144. 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: pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab 2011; 96: 3020-3030.
146. Ranzini AC, Ananth CV, Smulian JC, Kung M, Limbachia A, Vintzileos AM: Ultrasonography of the fetal thyroid: nomograms based on biparietal diameter and gestational age. J Ultrasound Med 2001; 20: 613-617.
147. Ribault V, Castanet M, Bertrand AM, et al: Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hypothyroidism in 12 cases. J Clin Endocrinol Metab 2009; 94: 3731-3739.
148. Thorpe-Beeston JG, Nicolaides KH, Mc- Gregor AM: Fetal thyroid function. Thyroid 1992; 2: 207-217.
149. Huel C, Guibourdenche J, Vuillard E, et al: Use of ultrasound to distinguish between fetal hyperthyroidism and hypothyroidism on discovery of a goiter. Ultrasound Obstet Gynecol 2009; 33: 412-420.
150. Rodriguez MH: Polyhydramnios: does reducing the amniotic fluid volume decrease the incidence of prematurity? Clin Perinatol 1992; 19: 359-366.
151. Polak M, Van Vliet G: Therapeutic approach of fetal thyroid disorders. Horm Res Paediatr 2010; 74: 1-5.
152. Stoppa-Vaucher S, Francoeur D, Grignon A, et al: Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment. J Pediatr 2010; 156: 1026-1029.