Disorders of the Thyroid in the Newborn and Infant

Pediatric Endocrinology

Volumn , Issue , 2008, Pages 198-226

  Fisher, Delbert A ^a   Grueters, Annette ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882470294     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-141604090-3.50011-9     Document Type: Chapter

References (198)

1. Santisteban P Development and anatomy of the hypothalamic-pituitary-thyroid axis. The thyroid 2005, 8-25. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
2. Brown RS, Huang SA, Fisher DA The maturation of thyroid function in the perinatal period and during childhood. The thyroid: A fundamental and clinical text 2005, 1013-1033. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
3. Polk DH, Fisher DA Fetal and neonatal thyroid physiology. Fetal and neonatal physiology 2004, 1926-1933. WB Saunders, Saunders, Philadelphia. Third edition. R.A. Polin, W.W. Fox, S.H. Abman (Eds.).
4. Fisher DA Fetal and neonatal endocrinology. Endocrinology 2006, 3369-3386. Elsevier-Saunders, Philadelphia. Fifth edition. L.J. DeGroot, J.L. Jameson (Eds.).
5. Grumbach MM, Gluckman PD The human fetal hypothalamus and pituitary gland: The maturation of neuroendocrine mechanisms controlling secretion of pituitary growth hormone, prolacton, gonadotropins, adrenocorticotropin-related peptides and thyrotropin. Maternal Fetal Endocrinology 1994, 193-261. WB Saunders, Philadelphia, . Second edition. D. Tulchinsky, A.B. Little (Eds.).
6. Roessler E, Belloni E, Gaudenz K, Jay P, et al. Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nature Genetics 1996, 14:356.
7. Wallis DE, Roessler E, Hehr U, Nanni L, et al. Mutations in the homeodomain of the human SIX-3 gene cause holoprosencephaly. Nature Genetics 1999, 22:196.
8. Brown SA, Warburton D, Brown LY, et al. Holoprosencephaly due to mutation in ZIC2, a homologue of drosphila odd paired. Nature Genetics 1998, 20:180.
9. Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. HESX1: A novel homeobox gene implicated in septo-optic dysplasia. Horm Res 1998, 50(3):6.
10. Tran PV, Savage JJ, Ingraham HA, Rhodes SJ Molecular genetics of hypothalamic-pituitary development. Pediatric endocrinology 2004, 63-79. Lippincott Williams & Wilkins, Philadelphia. O.H. Pescovitz, E.A. Eugster (Eds.).
11. Lanctôt C, Gauthier Y, Drouin J Pituitary homeobox (Ptx-1) is differentially expressed during pituitary development. Endocrinology 1999, 140:1416.
12. Machinis K, Pantel J, Netchine I, et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet 2001, 69:961.
13. DeFelice M, DiLauro R Thyroid development and its disorders: Genetics and molecular mechanisms. Endocrine Rev 2004, 25:722.
14. Manley NR, Capecchi MR HOX group 3 paralogs regulate the development and migration of the thymus, thyroid and parathyroid glands. Dev Biol 1998, 195:1.
15. Roti E, Gnudi A, Braverman LE The placental transport, synthesis and metabolism of hormones and drugs which affect thyroid function. Endocrine Rev 1983, 4:131.
16. Buttfield JH, Hetzel BA Endemic cretinism in Eastern New Guinea. Aust Ann Med 1969, 18:217.
17. Sibley CP, Boyd RDH Mechanisms of transfer across the human placenta. Fetal and neonatal physiology 2004, 111-122. WB Saunders, Philadelphia. Third edition. R.A. Polin, W.W. Fox, S.H. Abman (Eds.).
18. Burrow GN, Fisher DA, Larsen PR Maternal and fetal thyroid function. N Engl J Med 1994, 331:1072.
19. Huang SA. Physiology and pathophysiology of type 3 monodeiodinase in humans. Thyroid 15:875.
20. Fisher DA, Dussault JH, Sack J, Chopra IJ Ontogenesis of hypothalamic-pituitary-thyroid function and metabolism in man, sheep and rat. Rec Prog Horm Res 1977, 33:59.
21. Contempre B, Jauniaux E, Calvo R, et al. Detection of thyroid hormones in human embryonic cavities during the first trimester of pregnancy. J Clin Endocrinol Metab 1993, 77:1719.
22. Vulsma T, Gons MH, DeVijlder JJM Maternal fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. N Engl J Med 1989, 321:13.
23. Haddow JE, Palomaki GE, Allan WC, et al. Maternal thyroid hormone deficiency during pregnancy and subsequent neuropsychological development of the child. N Engl J Med 1999, 341:549.
24. Polk DA, Reviczky A, Lam RW, Fisher DA Thyrotropin releasing hormone in the ovine fetus; ontogeny and effect of thyroid hormone. Am J Physiol: Endocrinol Metab 1991, 23:E53.
25. Parry S, Strauss JF Placental hormones. Fetal and neonatal physiology 2004, 3353-3367. WB Saunders, Philadelphia. Third edition. R.A. Polin, W.W. Fox, S.H. Abman (Eds.).
26. Fisher DA Development of fetal thyroid system control. Iodine and the brain 1989, 167-176. Plenum Press, New York. G.R. Delong, J. Robbins, P.G. Condliffe (Eds.).
27. Hume R, Simpson J, Delahunty C, et al. Human and cord serum thyroid hormones: developmental trends and interrelationships. J Clin Endocrinol Metab 2004, 89:4097.
28. Thorpe-Beeston JG, Nicolaides KH, McGregor AM Fetal thyroid function. Thyroid 1992, 2:207.
29. Santini F, Chiovata L, Ghirri P, et al. Serum iodothyronines in the human fetus and the newborn: Evidence for an important role of placenta in fetal thyroid hormone homeostasis. J Clin Endocrinol Metab 1999, 84:493.
30. de Zegher F, Van hole C, Van den Berghe G, et al. Properties of thyroid stimulating hormone and cortisol secretion by the human newborn on the day of birth. J Clin Endocrinol Metab 1994, 79:576.
31. Fisher DA, Nelson JC, Carlton EI, Wilcox RB Maturation of human hypothalamic-pituitary-thyroid function and control. Thyroid 2000, 10:229.
32. Klein AH, Fisher DA Thyrotropin releasing hormone stimulated pituitary and thyroid gland responsiveness and 3,5,3' triiodothyronine suppression in fetal and neonatal lambs. Endocrinology 1980, 106:697.
33. Fisher DA Thyroid function in premature infants: The hypothyroxinemia of prematurity. Clin Perinatol 1998, 25:999.
34. Kuiper GJM, Kester MHA, Peeters RP, Visser TJ Biochemical mechanisms of thyroid hormone deiodination. Thyroid 2005, 15:787.
35. Maia A, Kim BW, Huang SA, et al. Type 2 iodothyronine deiodinase is the major source of plasma T3 in euthyroid humans. J Clin Invest 2005, 115:2524.
36. Wu SY, Green WL, Huang WS, Hays MT, et al. Alternate pathways of thyroid hormone metabolism. Thyroid 2005, 15:943.
37. Wassen WJS, Klootwijk W, Kaptein E, et al. Characteristics and thyroid state-dependent regulation of iodothyronine deiodinases in pigs. Endocrinology 2004, 145:4251.
38. Richard K, Hume R, Kaptein E, et al. Ontogeny of iodothyronine deiodinases in human liver. J Clin Endocrinol Metab 1998, 83:2868.
39. Fisher DA, Polk DH, Wu SY Fetal thyroid metabolism: A pluralistic system. Thyroid 1994, 4:367.
40. Kester MHA, DeMena RM, Obregon J, et al. Iodothyronine levels in the human developing brain: Major regulatory roles of iodothyronine deiodinases in different areas. J Clin Endocrinol Metab 2004, 89:3117.
41. Koopdonk-Kool JM, DeVijlder JJM, Veenboer GJM, et al. Type II and type III deiodinase in human placenta as a function of gestational age. J Clin Endocrinol Metab 1996, 81:2154.
42. Polk DH, Reviczyk A, Wu SY, et al. Metabolism of sulfoconjugated thyroid hormone derivatives in developing sheep. Am J Physiol 1994, 266:E892.
43. Richard K, Hume R, Kaptein E, et al. Sulfation of thyroid hormone and dopamine during human development: ontogeny of phenol sulfotransferases and arylsulfatase in liver, lung and brain. J Clin Endocrinol Metab 2001, 86:2734.
44. Stanley EM, Hume R, Visser TJ, Coughtrie WH Differential expression of sulfotransferase enzymes involved in thyroid hormone metabolism during human placental development. J Clin Endocrinol Metab 2001, 86:5944.
45. Morreale de Escobar G, Obregon MJ, Calvo R, Escobar del Rey F Effects of iodine deficiency on thyroid hormone metabolism and the brain in fetal rats: The role of the maternal transfer of thyroxine. Am J Clin Nutr Suppl 1993, 57:280S.
46. Fowden AL, Silver M The effects of thyroid hormones on oxygen and glucose metabolism in the sheep fetus during late gestation. J Physiology 1995, 482:203.
47. Polk DH Thyroid hormone effects on neonatal thermogenesis sermin. Perinatal 1988, 12:151.
48. Jansen J, Friesema ECH, Milici C, Visser TJ Thyroid hormone transporters in health and disease. Thyroid 2005, 15:757.
49. Incerpi S Thyroid hormones: Rapid reply by surface delivery only. Endocrinology 2006, 146:2861.
50. Bergh JJ, Lin HY, Lansing L, et al. Integrin aVb3 contains a cell surface receptor site for thyroid hormone that is linked to activation of mitogen-activated protein kinase and induction of angiogenesis. Endocrinology 2006, 146:2864.
51. Farwell AP, Dubord-Tomaselti SA, Pietrzykowski AZ, Leonard JL Dynamic nongenomic actions of thyroid hormone in the developing rat brain. Endocrinology 2006, 147:2567.
52. Lanni A, Moreno M, Lombardi A, et al. 3,5-diiodothyronine powerfully reduces adiposity in rats by increasing the burning of fats. FASEBJ online 2005, 1-22. [July, doi:10.1096/fj.05-3977fje].
53. Yen P Genomic and nongenomic actions of thyroid hormones. The thyroid 2005, 135-150. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
54. Flament F, Samarut J Thyroid hormone receptors: Lessons from knockout and knockin mutant mice. Trends Endocrinol Metab 2005, 14:85.
55. Polk DH, Cheromcha D, Reviczky AL, Fisher DA Nuclear thyroid hormone receptors: Ontogeny and thyroid hormone effects in sheep. Am J Physiol 1989, 256:E543.
56. Forhead AJ, Li J, Saunders JC, et al. Control of ovine hepatic growth hormone and insulin-like growth factor I by thyroid hormones in utero. Am J Physiol Endocrinol Metab 2000, 278:E1166.
57. Bernal J, Pekonen F Ontogenesis of nuclear 3,5,3' triiodothyronine receptors in human fetal brain. Endocrinology 1984, 114:677.
58. Gonzales LA, Ballard PL Identification and characterization of nuclear 3,5,3' triiodothyronine binding sites in fetal human lung. J Clin Endocrinol Metab 1981, 53:21.
59. Kilby MD, Gittoes N, McCabe C, et al. Expression of thyroid receptor isoforms in the human fetal central nervous system and the effects of intrauterine growth restriction. Clin Endocrinol 2000, 53:469.
60. LaFranchi SH, Hanna CE, Krainz PL, et al. Screening for congenital hypothyroidism with specimen collection at two time periods: Results of the Northwest Regional screening program. Pediatrics 1985, 76:734.
61. Grant DB, Smith I, Fuggle PW, et al. Congenital hypothyroidism detected by neonatal screening: Relationship between biochemical severity and early clinical features. Arch Dis Child 1992, 67:87.
62. Leger J, Czernichow P Congenital hypothyroidism, decreased growth velocity in the first weeks of life. Biol Neonate 1989, 55:218.
63. Grant DB Growth in early treated congenital hypothyroidism. Arch Dis Childh 1994, 70:464.
64. Delange F Neonatal screening for congenital hypothyroidism: Results and perspectives. Horm Res 1997, 48:51.
65. Calvo R, Obregon MJ, Ruiz de Ona C, et al. Congenital hypothyroidism as studied in rats: crucial role of maternal thyroxine but not of 3,5,31-triiodothyronine in the protection of the fetal brain. J Clin Invest 1990, 86:889.
66. Silva JE, Rabelo R Regulation of the uncoupling protein gene expression. Eur J Endocrinol 1997, 136:251.
67. Klein AH, Reviczky A, Chou P, et al. Development of brown adipose tissue thermogenesis in the ovine fetus and newborn. Endocrinology 1983, 112:1662.
68. Gong DW, He Y, Karas M, Reitman M Uncoupling protein-3 is a mediator of thermogenesis regulated by thyroid hormone, b3 adrenergic agonists, and leptin. J Biol Chem 1997, 272:24129.
69. Morreale de Escobar G, Obregon MJ, Escobar del Ray F Role of thyroid hormone during early brain development. Eur J Endocrinol 2004, 151:U25-U37.
70. Lavado-Autric R, Auso E, Garcia-Velasco JV, et al. Early maternal hypothyroxinemia alters histogenesis and cerebral cortex cytoarchitecture of progeny. J Clin Invest 2003, 111:1073.
71. Kasaltkina EP, Samsonova LN, Ivakhnenko VN, et al. Gestational hypothyroxinemia and cognitive function in offspring. Neurosci Behavioral Physiol 2006, 36:619.
72. Cao XY, Jiang XM, Dou ZH, et al. Timing of vulnerability of the brain to iodine deficiency in endemic cretinism. N Engl J Med 1994, 331:1739.
73. DeLong GR, Xue-Yi C, Xin Min J, et al. Iodine supplementation of a cross-section of iodine deficient pregnant women: does the human fetal brain undergo metamorphosis?. Iodine in pregnancy 1998, 55-78. Oxford University Press, Calcutta. J.B. Stanbury, F. Delange, J.T. Dunn, C.S. Pandav (Eds.).
74. Bongers Schokking JJ, de Muinck Keizer-Schrama SMPF 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.
75. Williams FLR, Simpson J, Delahunty C, et al. Developmental trends in cord and postpartum serum thyroid hormones in preterm infants. J Clin Endocrinol Metab 2004, 89:5314.
76. Williams FLR, Ogsten SA, van Toor H, et al. Serum thyroid hormones in preterm infants: Associations with postnatal illnesses and drug usage. J Clin Endocrinol Metab 2005, 90:5954.
77. Biswas S, Buffery J, Enoch H, et al. A longitudinal assessment of thyroid hormone concentrations in preterm infants younger than 30 weeks gestation during the first 2 weeks of life and their relationship to outcome. Pediatrics 2002, 109:222.
78. La Gamma EF, van Wassenaer AG, Golombek SG, et al. Neonatal thyroxine supplementation for transient hypothyroxinemia of prematurity (THOP): Beneficial or detrimental?. Treat Endocrinol 2006, 5:335.
79. Delange F, Dahlem A, Bourdoux P, et al. Increased risk of primary hypothyroidism in preterm infants. J Pediatr 1984, 105:462.
80. Delange FM, Dunn JT Iodine insufficiency. The thyroid 2005, 264-288. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
81. Ares S, Escobar Morreale H, Quero J, et al. Neonatal hypothyroxinemia: Effects of iodine intake and of premature birth. J Clin Endocrinol Metab 1997, 82:1704.
82. Roti E, Vaginakis AG Effect of excess iodide: Clinical aspects. The thyroid 2005, 288-305. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
83. Theodoropoulos T, Braverman LE, Vagenakis AG Iodide induced hypothyroidism: A potential hazard during perinatal life. Science 1979, 205:502.
84. van Wassenaer AG, Kok JH, Dekker FW, De Vijlder JJM Thyroid function in very preterm infants: Influences of gestational age and disease. Pediatr Res 1997, 42:604.
85. Rabin CW, Hopper AO, Job L, et al. Incidence of low free T4 values in premature infants as determined by direct equilibrium dialysis. J Perinatol 2004, 24:640.
86. van Wassenaer A, Kok JH, De Vijlder JJM, et al. Effects of thyroxine supplementation on neurologic development in infants born at less than 30 weeks gestation. N Engl J Med 1997, 336:21.
87. van Wassenaer AG, Briet JM, van Baar A, et al. Free thyroxine levels during the first weeks of life and neurodevelopmental outcome until the age of 5 years in very preterm infants. Pediatrics 2002, 109:534.
88. Fisher DA Effectiveness of newborn screening programs for congenital hypothyroidism: Prevalence of missed cases. Pediatr Clin N Amer 1987, 34:881.
89. Fisher DA Screening for congenital hypothyroidism: Status report. Trends in Endocrinol 1991, 2:129.
90. Tylek-Lemanska D, Kumorowicz-Kopiec M, Starzyk J Screening for congenital hypothyroidism: The value of retesting after four months in neonates with low or very low birth weight. J Med Screening 2005, 12:166.
91. van Tijn DA, de Vijlder JJM, Verbeeten B, et al. Neonatal detection of congenital hypothyroidism of central origin. J Clin Endocrinol Metab 2005, 90:3350.
92. Dentice M, Cordeddu V, Rosica A, et al. Missense mutation in the transcription factor NKX2-5: A novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006, 91:1428.
93. Senee V, Chelala C, Duchatelet S, et al. Mutations in GL153 are responsible for a rare syndrome of neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 2006, 38:682.
94. 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.
95. Leger J, Marinovic D, Garel C, et al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002, 87:575.
96. Grueters A, Krude H, Biebermann H Molecular genetic defects in congenital hypothyroidism. Eur J Endocrinol 2004, 151:U39.
97. Fisher DA, Grueters A Thyroid disorders. Principles and practice of medical genetics 2007, 1932-1950. Churchill Livingstone, New York. Fifth edition. D.L. Rimoin, B.R. Korf, R.E. Pyeritz, J.A. Connor (Eds.).
98. Knobel M, Medeiros-Neto G An outline of inherited disorders of the thyroid hormone generating system. Thyroid 2003, 13:771.
99. Vulsma T, De Vijlder JJM Genetic defects causing hypothyroidism. The thyroid 2005, 714-730. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
100. Gross B, Misrahi M, Sar S, Milgrom E Composite structure of the thyrotropin receptor gene. Biochem Biophys Res Commun 1991, 177:679.
101. Duprez L, Parma J, Van Sande J, et al. TSH receptor mutations and thyroid disease. Trends in Endocrinol 1998, 9:133.
102. Corvillain B, Van Sande J, Dumont JE, Vassart G Somatic and germline mutations of the TSH receptor and thyroid diseases. Clin Endocrinol 2001, 55:143.
103. Gruters A, Schonberg T, Bieberman H, et al. Severe congenital hyperthyroidism caused by a germline neomutation in the extracellular portion of the thyrotropin receptor. J Clin Endocrinol Metab 1998, 83:1431.
104. Abramowicz MJ, Duprez L, Parma J, et al. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997, 99:3018.
105. Spiegel AM The molecular basis of disorders caused by defects in G proteins. Horm Res 1997, 47:89.
106. Pohlenz J, Refetoff S Mutations in the sodium/iodide symporter gene as a cause for iodide transport defects and congenital hypothyroidism. Biochemie 1999, 81:469.
107. Szinnai G, Kusugi S, Derriene, 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.
108. Dai G, Levy O, Carrasco N Cloning and characterization of the thyroid iodide transporter. Nature 1996, 379:458.
109. Smanik PA, Liu Q, Furminger TL, et al. Cloning of the human sodium iodide symporter. Biochem Biophys Res Commun 1996, 226:339.
110. Dohan D, De La Vieja A, Paroder V, Riedel C, Artani M, Reed M, et al. The sodium/iodide symporter (NID): Characterization, regulation and medical significance. Endocr Rev 2003, 24:48.
111. Pannain S, Weiss RE, Jackson CE, et al. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: Power and limits of homozygosity mapping. J Clin Endocrinol Metab 1999, 84:1061.
112. Vassart G, Dumont JE, Refetoff S Thyroid disorders. The metabolic and molecular bases of inherited disease 1995, 2883. McGraw Hill, New York. Seventh edition. A.L. Beudet, W.S. Sly, D. Valle (Eds.).
113. DeDeken X, Wang D, Many MC, et al. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J Biol Chem 2000, 275:23227.
114. Moreno JC, Bikker H, Kempers MJE, et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002, 347:95.
115. Billerbeck AEC, Cavaliere H, Goldberg AC, et al. Clinical and molecular genetics studies in Pendred's syndrome. Thyroid 1994, 4:279.
116. Sheffield VC, Kraiem Z, Beck JC, et al. Pendred syndrome maps to chromosome 7q 21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genetics 1996, 12:424.
117. Scott DA, Wang R, Kremer TM, et al. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genetics 1999, 21:440.
118. Nakiontek V, Borck G, Muller-Forell W, et al. Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab 2004, 89:5347.
119. Targovnik HM, Medeiros-Neto G, Varela V, et al. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocr Metab 1993, 77:210.
120. Grollman EF, Doi SQ, Weiss P, et al. Hyposialylated thyroglobulin in a patient with congenital goiter and hypothyroidism. J Clin Endocrinol Metab 1992, 74:43.
121. Van de Graaf SAR, Cammenga M, Ponne NJ, et al. The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism. Biochimie 1999, 81:425.
122. Gnidehou S, Caillou B, Talbot M, et al. Iodothyronine dehalogenase (DEHAL1) is a transmembrane protein involved in recycling of iodide close to the thyroglobulin iodination site. FASEBJ 2004, 18:1574.
123. Moreno JC, van der Hout C, Klootwijk W, Visser TJ Functional analysis of DEHAL1 gene mutations in patients with hypothyroidism. Horm Res 2006, 65(4):31.
124. Dumitrescu AM, Liao XH, Abdullah MSY, et al. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nature Genetics 2005, 37:1247.
125. Refetoff S Resistance to thyroid hormone. The thyroid: A fundamental and clinical text 2005, 1109-1129. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. L.E. Braverman, R.D. Utiger (Eds.).
126. Gurnel M, Beck Peccoz P, Chaterjee VK Resistance to thyroid hormone. Endocrinology 2006, 2227-2238. Elsevier-Saunders, Philadelphia. Fifth edition. L.J. DeGroot, J.L. Jameson (Eds.).
127. Hauser P, Zametkin AJ, Martinez P, et al. Attention deficit: Hyperactivity disorders in people with generalized resistance to thyroid hormone. N Engl J Med 1993, 328:997.
128. Brucker-Davis F, Skarulis MC, Pikus A, et al. Prevalence and mechanisms of hearing loss in patients with resistance to thyroid hormone. J Clin Endocrinol Metab 1996, 81:2768.
129. Adams M, Matthews C, Collingwood TN, et al. Genetics analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. J Clin Invest 1994, 94:506.
130. Dumitrescu M, Liao XH, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004, 74:168.
131. Friesema ECH, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe x-linked psychomotor retardation. Lancet 2004, 364:1435.
132. Friesema ECH, Jansen J, Heuer J, et al. Mechanisms of disease: Psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nature Clin Pract 2006, 2:512.
133. La Franchi S Congenital hypothyroidism, etiologies, diagnosis and management. Thyroid 1999, 9:735.
134. Yamada M, Saga Y, Shubusawa N, et al. Tertiary hypothyroidism and hyperglycemia in mice with targeted disruption of the thyrotropin releasing hormone gene. Proc Natl Acad Sci USA 1997, 94:10862.
135. Rabelen R, Miltag J, Geffers L, et al. Generation of thyrotropin releasing hormone receptor 1-deficient mice as an animal model of central hypothyroidism. Mol Endocrinol 2004, 18:1450.
136. Collu R, Tang J, Castagne J, et al. A novel mechanism for isolated central hypothyroidism: Inactivating mutations in the thyrotropin releasing hormone receptor gene. J Clin Endocrinol Metab 1997, 82:1562.
137. Hayashizaki Y, Hiraoka Y, Endo Y, Matsubara K Thyroid stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the b subunit. EMBO Journal 1989, 8:2291.
138. Hayashizaki Y, Hiraoka Y, Tatsumi K, et al. Deoxyribonucleic acid analysis of five families with familial inherited thyroid-stimulating hormone deficiency. J Clin Endocr Metab 1990, 71:792.
139. Docker BM, Pfaffle RW, Pohlenz J, Andler W Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin b subunit gene follows an autosomal recessive inheritance. J Clin Endocrinol Metab 1998, 83:1762.
140. Medeiros-Neto GA, de Laserda L, Wondisford FE Familial congenital hypothyroidism caused by abnormal and bioinactive TSH due to mutations in the b subunit gene. Trends in Endocrinol 1997, 8:15.
141. Brumm J, Pfeufer A, Biebermann H, et al. Congenital central hypothyroidism due to a homozygous thyrotropin beta 313 delta T mutation is caused by a founder effect. J Clin Endocrinol Metab 2002, 87:4811.
142. Parks JS, Kinoshita E, Pfafle RW Pit-1 and hypopituitarism. Trends Endocr Metab 1993, 4:81.
143. Rosenbloom AL, Almonte AS, Brown MR, et al. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP-1 gene. J Clin Endocrinol Metab 1999, 84:50.
144. Brown R, Bellisario R, Botero D, et al. Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor blocking antibodies in over one million babies. J Clin Endocrinol Metab 1996, 81:1147.
145. Glinoer D, Delange F, Laboureur I, et al. Maternal and neonatal thyroid function at birth in an area of marginally low iodine intake. J Clin Endocrinol Metab 1992, 75:800.
146. Matsura N, Yamada Y, Nohara Y, et al. Familial, neonatal transient hypothyroidism due to maternal TSH-binding inhibitor immunoglobulins. N Engl J Med 1980, 303:738.
147. Iseki M, Shimizu M, Oikawa T, et al. Sequential serum measurements of thyrotropin binding inhibiting immunoglobulin G in transient neonatal hypothyroidism. J Clin Endocrinol Metab 1983, 57:384.
148. Kohler B, Schnabel D, Biebermann H, Grueters A Transient congenital hypothyroidism and hyperthyrotropinemia: Normal thyroid function and physical development at the ages of 6-14 years. J Clin Endocrinol Metab 1996, 81:1563.
149. Miki J, Nose O, Miyai K, et al. Transient infantile hyperthyrotropinemia. Arch Dis Childh 1989, 64:1177.
150. Tyfield LA, Abusrewil SSA, Jones SR, Savage DCL Persistent hyperthyrotropinemia since the neonatal period in clinical euthyroid children. Eur J Pediatr 1991, 150:308.
151. Tonacchera M, Perri A, DeMarco G, et al. Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2004, 89:5787.
152. Tsunekawa K, Onigata K, Morimura T, et al. Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance. Thyroid 2006, 16:471.
153. Sapin R, d'Herbomez M Free thyroxine measured by equilibrium dialysis and nine immunoassays. Clin Chem 2003, 49:1531.
154. Ilicki A, Ericsson UB, Larsson A, et al. The value of neonatal serum thyroglobulin determination in the follow-up of patients with congenital hypothyroidism. Acta Paediatr Scand 1990, 79:769.
155. Selva K, Harper A, Downs A, et al. Neurodevelopmental outcomes in congenital hypothyroidism: Comparison of initial T4 dose and time to reach target T4 and TSH. J Pediatr 2005, 147:775.
156. Bakker B, Kempers MJE, DeVijlder JJM, et al. Dynamics of the plasma concentrations of TSH, FT4 and T3 following thyroxine supplementation in congenital hypothyroidism. Clin Endocrinol 2002, 57:529.
157. Fisher DA, Schoen EJ, LaFranchi S, et al. The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism. J Clin Endocrinol Metab 2000, 85:2722.
158. Derksen-Lubsen G, Verkerk PH Neuropsychologic development in early treated congenital hypothyroidism: analysis of literature data. Pediatr Res 1996, 39:561.
159. Neonatal thyroid screening: Now we are nine. Research in congenital hypothyroidism 1989, 291-299. New England Congenital Hypothyroidism Collaborative, Plenum Press, New York. F. Delange, D.A. Fisher, D. Glinoer (Eds.).
160. Heyerdahl S, Kase BF, Lie SO Intellectual development of children with congenital hypothyroidism in relation to recommended thyroxine treatment. J Pediatrics 1991, 118:850.
161. Boileau P, Bain P, Rivas S, Toublanc JE Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: Which was the more important factor for IQ at 7 years?. Horm Res 2004, 61:228.
162. Simoneau-Roy J, Marti S, Deal C, et al. Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high dose levothyroxine. J Pediatr 2004, 144:747.
163. Rovet JF Congenital hypothyroidism: Long term outcome. Thyroid 1999, 9:741.
164. Kempers MJE, van der Sluijs L, Nijhuis-van der Sanden MWG, et al. Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab 2006, 91:418.
165. Dubuis JM, Glorieux J, Richer F, et al. Outcome of severe congenital hypothyroidism: Closing the developmental gap with early high dose levothyroxine treatment. J Clin Endocrinol Metab 1996, 81:222.
166. Fisher DA The importance of early management in optimizing IQ in infants with congenital hypothyroidism. J Pediatrics 2000, 136:273.
167. Weiss RE, Balzano S, Scherberg NH, et al. Neonatal detection of generalized resistance to thyroid hormone. JAMA 1990, 264:2245.
168. McKenzie JM, Zakarija M Fetal and neonatal hyperthyroidism and hypothyroidism due to maternal TSH receptor antibodies. Thyroid 1992, 2:155.
169. Fisher DA Fetal thyroid function: Diagnosis and management of fetal thyroid disorders. Clin Obstet Gynecol 1997, 40:16.
170. La Franchi S, Hanna CE Graves' disease in the neonatal period and childhood. The thyroid: A fundamental and clinical text 2005, 1049-1057. Lippincott Williams & Wilkins, Philadelphia. Ninth edition. Braverman, R.D. Utiger (Eds.).
171. Mitsuda N, Tamaki H, Amino N, et al. Risk factors for developmental disorders in infants born to women with Graves' disease. Obstet Gynecol 1992, 80:359.
172. Kempers M, van der Sluijs-Veer L, Nijhuis-van der Sanden M, et al. Central congenital hypothyroidism due to gestational hyperthyroidism: Detection where prevention failed. J Clin Endocrinol Metab 2003, 88:5851.
173. Druzin ML, Hutson JM, Edersheim TG Relationship of baseline fetal heart rate to gestational age and fetal sex. Am J Obstet Gynecol 1986, 154:1102.
174. Momotani N, Ito K, Ohnishi H, et al. Deceptively high thyroid hormone levels in a neonate due to autoantibodies against thyroid hormones transferred from a mother with Graves' disease. J Endocrinol Invest 1992, 15:201.
175. Karpman BA, Rappoport B, Filetti S, Fisher DA Treatment of neonatal hyperthyroidism due to Graves' disease with sodium ipodate. J Clin Endocrinol Metab 1987, 64:119.
176. Earles SM, Gerrits PM, Transue DJ Experience with iopanoic acid in the management of neonatal Graves' disease. J Perinatology 2004, 24:105.
177. Vassart G, Van Sande J, Parma J, et al. Activating mutations of the TSH receptor gene cause thyroid diseases. Annal Endocrinol (Paris) 1996, 57:50.
178. Kopp P, Van Sande J, Parma J, et al. Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin receptor gene. N Engl J Med 1995, 332:150.
179. Schwab KO, Gerlich M, Brocker M, et al. Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism. J Pediatr 1997, 131:899.
180. Borgel K, Pohlenz J, Koch HG, Braunswig JH Long term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Als428Val). Horm Res 2005, 64:203.
181. Claus M, Maier J, Paschke R, et al. Novel thyrotropin receptor germline mutation (ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. Thyroid 2005, 15:1089.
182. Refetoff S Inherited thyroxine binding globulin abnormalities in man. Endocrine Rev 1989, 10:275.
183. Carvalho GA, Weiss RE, Refetoff S Complete thyroxine binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG Kankakee). J Clin Endocrinol Metab 1998, 83:3604.
184. Okamoto H, Mori Y, Tani Y, et al. Molecular analysis of females manifesting thyroxine binding globulin (TBG) deficiency: Selective x chromosome inactivation responsible for the difference between phenotype and genotype in TBG deficient females. J Clin Endocrinol Metab 1996, 81:2204.
185. Janssen OE, Astner ST, Grasberger H, et al. Identification of thyroxine binding globulin - San Diego in a family from Houston and its characterization by in-vitro expression using xenopus oocytes. J Clin Endocrinol Metab 2000, 85:368.
186. Mori Y, Miura Y, Takeuchi H, et al. Gene amplification as a cause of inherited thyroxine binding excess in two Japanese families. J Clin Endocrinol Metab 1995, 80:3758.
187. Moses AAC, Lawlor JF, Haddow JE, Jackson IMD Familial euthyroid hyperthyroxinemia resulting from increased immunoreactive thyroxine-binding prealbumin (TBPA). N Engl J Med 1982, 306:366.
188. Moses AC, Rosen HN, Moller DE, et al. A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest 1990, 86:2025.
189. Refetoff S, Marinov VSZ, Tunca H, et al. A new family with hyperthyroxinemia caused by transthyretin VAL109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone: A clinical research study. J Clin Endocrinol Metab 1996, 81:3355.
190. Lee WNP, Golden MP, Van Herle AJ, et al. Inherited abnormal thyroid hormone binding protein causing selective increase in total serum thyroxine. J Clin Endocrinol Metab 1979, 49:292.
191. Wada N, Chiba H, Shimizu C, et al. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab 1997, 82:3246.
192. Sunthornthepvarakul T, Likitmaskul S, Ngowngarmratana, et al. Familial dysalbuminemic hypertriiodothyroninemia: A new, dominantly inherited albumin defect. J Clin Endocrinol Metab 1998, 83:1448.
193. Fisher DA The fetal frontier. Pediatric Res 1993, 34:393.
194. Jenkins TM, Wapner RJ Prenatal diagnosis of congenital disorders. Maternal fetal medicine 2004, 235-280. WB Saunders, Philadelphia, . Fifth edition. R.K. Creasy, R. Resnik (Eds.).
195. Chopra IJ Fetal and neonatal hyperthyroidism. Thyroid 1992, 2:161.
196. Abuhamad A, Fisher DA, Warsof SL, et al. Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: Case report and review of the literature. Ultrasound Obstet Gynecol 1995, 6:368.
197. Ghazi AM, Ordookhani A, Pourafkari M, et al. Intrauterine diagnosis and management of fetal goitrous hypothyroidism: A report of an Iranian family with three consecutive pregnancies complicated by fetal goiter. Thyroid 2005, 15:1341.
198. Polak M, Legac I, Vuillard E, et al. Congenital hypothyroidism: The fetus as patient. Horm Res 2006, 65:235.