Thyroid gland development and defects

Best Practice and Research in Clinical Endocrinology and Metabolism

Volumn 22, Issue 1, 2008, Pages 57-75

  Kratzsch, Juergen ^a   Pulzer, Ferdinand ^a  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

congenital hyperthyroidism; congenital hypothyroidism; fetal medicine; neurodevelopment; newborn screening; premature neonates; thyroid; thyroid hormones; TSH

Indexed keywords

ANTICONVULSIVE AGENT; ANTITHYROID AGENT; CALCIUM; CARBIMAZOLE; DIGITALIS; DIGOXIN; DISINFECTANT AGENT; DOPAMINE; IODINATED CONTRAST MEDIUM; IODINE; IOPANOIC ACID; IRON; LEVOTHYROXINE; LIOTHYRONINE; LUGOL; MIDAZOLAM; POTASSIUM IODIDE; PREDNISONE; PROPRANOLOL; PROPYLTHIOURACIL; RADIOACTIVE IODINE; SEDATIVE AGENT; THIAMAZOLE; THYROTROPIN; THYROXINE; THYROXINE BINDING GLOBULIN; TRANSCRIPTION FACTOR;

CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL FEATURE; CLINICAL TRIAL; CONGENITAL HYPOTHYROIDISM; CONTINUOUS INFUSION; DEVELOPMENTAL DISORDER; DISORDERS OF HORMONE METABOLISM; DRUG ANTAGONISM; FETUS DEVELOPMENT; GENETIC SCREENING; GRAVES DISEASE; HUMAN; HYPERTHYROIDISM; HYPOTHYROIDISM; HYPOTHYROXINEMIA; IODINE DEFICIENCY; LABORATORY DIAGNOSIS; NEGATIVE FEEDBACK; NEWBORN SCREENING; ONTOGENY; PREMATURITY; RECOMMENDED DRUG DOSE; REVIEW; THYROID CELL; THYROID DISEASE; THYROID FUNCTION; THYROTOXICOSIS;

FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; INFANT, PREMATURE; ORGANOGENESIS; PREGNANCY; THYROID DISEASES; THYROID GLAND; THYROID HORMONES;

EID: 38949199991     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2007.08.006     Document Type: Review

References (97)

1. Trueba S.S., Auge J., Mattei G., et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. The Journal of Clinical Endocrinology and Metabolism 90 (2005) 455-462
2. LaFranchi S., Thyroid Physiology in the fetus and preterm infant. Uptodate 2006.
3. Larsen P.R., Davies T.F., Schlumberger M.J., et al. Thyroid physiology and diagnostic evaluation of patients with thyroid disorders. In: Larsen P.R., Kronenberg H.M., Melmed S., et al. (Eds). Williams textbook of endocrinology. 10th edn. (2003), Saunders, Philadelphia, Pennsylvania 331-333
4. Shepard T.H., Andersen H.J., and Andersen H. The human fetal thyroid. Its weight in relation to body weight, crown-rumplength, foot length and estimation of gestational age. The Anatomical Record 148 (1964) 123
5. Civitareale D., Lonigro R., Sinclair A.J., et al. Thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter. The EMBO Journal 8 (1989) 2537-2542
6. diMagliano M.P., Di Lauro R., and Zannini M. Pax8 has a key role in thyroid cell differentiation. Proceedings of the National Academy of Sciences of the United States of America 97 (2000) 13144-13149
7. De Felice M., and Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocrine Reviews 25 (2004) 722-746
8. Tsoumalis G., and Tsatsoulis A. Ontogenesis and anatomy of hypothalamic-pituitary-thyroid axis. In: Krassas G.E., Rivkees S.A., and Kiess W. (Eds). Diseases of the thyroid in childhood and adolescence. Pediatric and Adolescent Medicine vol. 11 (2007), Karger, Basel 1-24
9. Christophe D. The control of thyroid-specific gene expression: what exactly have we learned as yet?. Molecular and Cellular Endocrinology 223 (2004) 1-4
10. Macchia P.E. Recent advances in understanding the molecular basis of primary congenital hypothyroidism. Molecular Medicine Today 6 (2000) 36-42
11. Park S.M., and Chatterjee V.K. Genetics of congenital hypothyroidism. Journal of Medical Genetics 42 (2005) 379-389
12. Greenberg A.H., Czernichow P., Reba R.C., et al. Observations on the maturation of thyroid function in early fetal life. The Journal of Clinical Investigation 49 (1970) 1790-1803
13. Calvo R.M., Jauniaux E., Gulbis B., et al. Fetal tissues are exposed to biologically relevant free thyroxine concentrations during early phases of development. The Journal of Clinical Endocrinology and Metabolism 87 (2002) 1768-1777
14. Hume R., Simpson J., Delahunty C., et al., Scottish Preterm Thyroid Group. Human fetal and cord serum thyroid hormones: developmental trends and interrelationships. The Journal of Clinical Endocrinology and Metabolism 89 (2004) 4097-4103
15. Thorpe-Beeston J.G., Nicolaides K.H., Felton C.V., et al. Maturation of the secretion of thyroid hormone and thyroid-stimulating hormone in the fetus. The New England Journal of Medicine 324 (1991) 532-536
16. Ballabio M., Nicolini U., Jowett T., et al. Maturation of thyroid function in normal human foetuses. Clinical Endocrinology 31 (1989) 565-571
17. Roti E., Gnudi A., Braverman L.E., et al. Human cord blood concentrations of thyrotropin, thyroglobulin, and iodothyronines after maternal administration of thyrotropin-releasing hormone. The Journal of Clinical Endocrinology and Metabolism 53 (1981) 813-817
18. Thorpe-Beeston J.G., Nicolaides K.H., and McGregor A.M. Fetal thyroid function. Thyroid 2 (1992) 207-217
19. Fryer A.A., Jones P., Strange R., et al. Plasma protein levels in normal human fetuses: 13 to 41 weeks' gestation. British Journal of Obstetrics and Gynaecology 100 (1993) 850-855
20. Fisher D.A., and Klein A.H. Thyroid development and disorders of the thyroid function in the newborn. The New England Journal of Medicine 304 (1981) 702-712
21. Dussault J., Row V.V., Lickrish G., et al. Studies of serum triiodothyronine concentration in maternal and cord blood: transfer of triiodothyronine across the human placenta. The Journal of Clinical Endocrinology and Metabolism 29 (1969) 595-603
22. Raiti S., Holzman G.B., Scott R.L., et al. Evidence for the placental transfer of tri-iodothyronine in human beings. The New England Journal of Medicine 277 (1967) 456-459
23. Vulsma T., Gons J., and deVilder J.M. Maternal-fetal transfer of thyroxin in congenital hypothyroidism due to a total organification defect of thyroid dysgenesis. The New England Journal of Medicine 321 (1989) 13-16
24. Contempre B., Jauniaux E., Calvo R., et al. Detection of thyroid hormones in human embryonic cavities during the first trimester of pregnancy. The Journal of Clinical Endocrinology and Metabolism 77 (1993) 1719-1722
25. Wilson J.D., and Foster D.W. Williams textbook of endocrinology. In: Larsen P.R., and Ingbar S.H. (Eds). The thyroid gland. 8th edn. (1992), WB Saunders, Philadelphia 357-487
26. Grüters A. Störungen der Schilddrüse. In: Kruse K. (Ed). Pädiatrische Endokrinologie (1999), Georg Thieme Verlag, Stuttgart, New York 30-72
27. Williams F.L., Mires G.J., Barnett C., et al., Scottish Preterm Thyroid Group. Transient hypothyroxinaemia in preterm infants: the role of cord sera thyroid hormone levels adjusted for prenatal and intrapartum factors. The Journal of Clinical Endocrinology and Metabolism 90 (2005) 4599-4606
28. Bleichrodt N., and Born M.P. A meta-analysis of research on iodine and its relationship with to cognitive development. In: Stanbury J.B. (Ed). The Damaged Brain of Iodine Deficiency (1994), Cognizant Communication, New York 195-205
29. Vermiglio F., Sidoti M., Finocchiaro M.D., et al. Defective neuromotor and cognitive ability in iodine-deficient schoolchildren of an endemic goiter region in Sicily. The Journal of Clinical Endocrinology and Metabolism 70 (1990) 379-384
30. Fenzi G.F., Giusti L.F., Aghini-Lombardi F., et al. Neuropsychological assessment in schoolchildren from an area of moderate iodine deficiency. Journal of Endocrinological Investigation 13 (1990) 427-431
31. Glinoer D. The regulation of thyroid function during normal pregnancy: importance of the iodine nutrition status. Best Practice and Research. Clinical Endocrinology and Metabolism 18 (2004) 133-152
32. Klein A.H., Oddie T.H., Foley T.P., et al. Developmental changes in pituitary-thyroid function in the human fetus and newborn. Early Human Development 6 (1982) 321-330
33. Williams F.L., Simpson J., Delahunty C., et al., Collaboration from the Scottish Preterm Thyroid Group. Developmental trends in cord and postpartum serum thyroid hormones in preterm infants. The Journal of Clinical Endocrinology and Metabolism 89 (2004) 5314-5320
34. Cheetham T. Endocrine disorders. In: Rennie J.M. (Ed). Robertons Textbook of Neonatology. 4th edn. (2005), Elsevier, Philadelphia 875
35. Brown A., Fernhoff P.M., Milner J., et al. Racial differences in the incidence of congenital hypothyroidism. The Journal of Pediatrics 99 (1981) 934-937
36. Frasier S.D., Penny R., and Synder R. Primary congenital hypothyroidism in Spanish-surnamed infants in southern California. The Journal of Pediatrics 101 (1982) 315-317
37. Kempers M.J.E., Lanting C.I., van Heijst A.F.J., et al. Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. The Journal of Clinical Endocrinology and Metabolism 91 (2006) 3370-3376
38. LaFranchi S.H., Hanna C.E., Krainz P.L., et al. Screening for congenital hypothyroidism with specimen collection at two time periods: Results of the Northwest Regional Screening Program. Pediatrics 76 (1985) 734-740
39. Dussault J.H., Letarte J., Guyda H., et al. Lack of influence of thyroid antibodies on thyroid function in the newborn infant and on a mass screening program for congenital hypothyroidism. The Journal of Pediatrics 96 (1980) 385-387
40. Fort P., Lifschitz F., Bellisario R., et al. Abnormalities of thyroid function in infants with Down syndrome. The Journal of Pediatrics 104 (1984) 545-549
41. Olivieri A., Medda E., De Angelis S., et al. High risk of congenital hypothyroidism in multiple pregnancies. The Journal of Clinical Endocrinology and Metabolism 92 (2007) 3141-3147
42. Olivieri A., Stazi M.A., 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). The Journal of Clinical Endocrinology and Metabolism 87 (2002) 557-562
43. Karges B., and Kiess W. Congenital hypothyroidism. In: Krassa E., Rivkees S., and Kiess W. (Eds). Diseases of the thyroid in childhood and adolescence. 1st edn. (2007), S. Karger, Basel, Switzerland 118-127
44. Knobel M., and Medeiros-Neto G. An outline of inherited disorders of the thyroid hormone generating system. Thyroid 13 (2003) 771-801
45. Krude H., Schutz B., Biebermann H., et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. The Journal of Clinical Investigation 109 (2002) 475-480
46. Leger J., Marinovic D., Garel C., et al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. The Journal of Clinical Endocrinology and Metabolism 87 (2002) 575-580
47. Jacobsen B.B., and Brandt N.J. Congenital hypothyroidism in Denmark. Archives of Disease in Childhood 56 (1981) 131-136
48. Rose S.R., and Brown R.S. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 117 (2006) 2290-2303
49. Baloch Z., Carayon P., Conte-Devolx B., et al. Laboratory medicine practice guidelines. Laboratory support for the diagnosis and monitoring of thyroid disease. Thyroid 13 (2003) 3-126
50. Polak M. Hyperthyroidism in early infancy: pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism. Thyroid 8 (1998) 1171-1177
51. Polak M., Legac I., Dominique L., et al. Congenital Hyperthyroidism: The fetus as a patient. Hormone Research 65 (2006) 235-242
52. McKenzie J.M., and Zakarija M. Pathogenesis of neonatal Graves' disease. Journal of Endocrinological Investigation 2 (1978) 183-187
53. Ogilvy-Stuart A.L. Neonatal thyroid disorders. Archives of Disease in Childhood. Fetal and Neonatal Edition 87 (2002) 65-71
54. Zakarija M., and Mcenzie J.M. Pregnancy-associated changes in the thyroid stimulating antibody of Graves' disease and the relationship to neonatal hyperthyroidism. The Journal of Clinical Endocrinology and Metabolism 57 (1983) 1036-1039
55. Brown R.S., Bellisario R.L., Botero D., et al. Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. The Journal of Clinical Endocrinology and Metabolism 81 (1996) 1147-1151
56. Duprez L., Parma J., Van Sande J., et al. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nature Genetics 7 (1994) 396-401
57. Kopp P., van Sande J., Parma J., et al. Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. The New England Journal of Medicine 332 (1995) 183-185
58. Kempers M.J.E., Van Tijn D.A., Vulsma T., et al. Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. The Journal of Clinical Endocrinology and Metabolism 88 (2003) 5851-5857
59. van Wassenaer A.G., Briet J.M., 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 110 (2002) 534-539
60. Reuss M.L., Paneth N., Pinto Martin J., et al. The relation of transient hypothyroxinemia in preterm infants to neurologic development at 2-years of age. The New England Journal of Medicine 334 (1996) 821-827
61. Paul D.A., Leef K.H., Stefano J.L., et al. Low serum thyroxine on initial newborn screening is associated with intraventricular hemorrhage and death in very low birth weight infants. Pediatrics 101 (1998) 903-907
62. Levington A., Paneth N., Reuss M.L., et al. Hypothyroxinaemia of prematurity and risk of cerebral white matter damage. The Journal of Pediatrics 134 (1999) 706-711
63. Pavelka S., Kopecky P., Bendlova B., et al. Tissue metabolism and plasma levels of thyroid hormones in critically ill very premature infants. Pediatric Research 42 (1997) 812-818
64. Reuss M.L., Paneth N., Lorenz J.M., et al. Correlates of low thyroxine values at newborn screening among infants born before 32 weeks gestation. Early Human Development 47 (1997) 223-233
65. Dembinski J., Arpe V., Kroll M., et al. Thyroid function in very low birth weight infants after intravenous administration of the iodinated contrast medium iopromide. Archives of Disease in Childhood. Fetal and Neonatal Edition 82 (2000) F215-F217
66. Adams L.M., Emery J.R., Clark S.J., et al. Reference ranges for newer thyroid function tests in premature infants. The Journal of Pediatrics 126 (1995) 122-127
67. Dembinski J. Thyroid hormone levels in the blood of premature infants. Journal of Pediatric Endocrinology and Metabolism: JPEM 20 Suppl 1 (2007) 151-154
68. Vanhole C., Aerssens P., Naulaers G., et al. Thyroxine treatment of preterm newborns: clinical and endocrine effects. Pediatric Research 42 (1997) 87-92
69. Briet J.M., Van Wassenear A.G., Dekker F.W., et al. Neonatal thyroxine supplementation in very preterm children: developmental outcome evaluated at early school age. Pediatrics 107 (2001) 712-718
70. van Wassenaer A.G., Kok J.H., Dekker F.W., et al. Thyroid function in very preterm infants: influences of gestational age and disease. Pediatric Research 42 (1997) 604-609
71. Osborn D.A., and Hunt R.W. Prophylactic postnatal thyroid hormones for prevention of morbidity and mortality in preterm infants. Cochrane Database of Systematic Reviews (Online) Issue 1 (2007) 10.1002/14651858.CD005948.pub2 Art. No.: CD005948
72. Osborn D.A., and Hunt R.W. Postnatal thyroid hormones for preterm infants with transient hypothyroxinaemia. Cochrane Database of Systematic Reviews (Online) Issue 1 (2007) 10.1002/14651858.CD005945.pub2 Art. No.: CD005945
73. WiIliams F.L., Visser T.J., and Hume R. Transient hypothyroxinaemia in preterm infants. Early Human Development 82 (2006) 797-802
74. Delange F., Dalhem A., Bourdoux P., et al. Increased risk of primary hypothyroidism in preterm infants. The Journal of Pediatrics 105 (1984) 462-469
75. Ibrahim M., Sinn J., and McGuire W. Iodine supplementation for the prevention of mortality and adverse neurodevelopmental outcomes in preterm infants. Cochrane Database of Systematic Reviews (Online) Issue 2 (2006) 10.1002/14651858.CD005253.pub2 Art. No.: CD005253
76. Rogahn J., Ryan S., Wells J., et al. Randomised trial of iodine intake and thyroid status in preterm infants. Archives of Disease in Childhood. Fetal and Neonatal Edition 83 (2000) 886-890
77. Murphy N., Hume R., van Toor H., et al. The hypothalamic-pituitary-thyroid axis in preterm infants; changes in the first 24 hours of postnatal life. The Journal of Clinical Endocrinology and Metabolism 89 (2004) 2824-2831
78. Simpson J., WiIliams F.L., Delahunty C., et al., Scottish Preterm Thyroid Group. Serum thyroid hormones in preterm infants and relationships to indices of severity of intercurrent illness. The Journal of Clinical Endocrinology and Metabolism 90 (2005) 1271-1279
79. Calaciura F., Motta R.M., Miscio G., et al. Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. The Journal of Clinical Endocrinology and Metabolism 87 (2002) 3209-3214
80. Cianfarani S., Maiorana A., Geremia C., et al. Blood glucose concentrations are reduced in children born small for gestational age (SGA) and thyroid-stimulating hormone levels are increased in SGA with blunted postnatal catch-up growth. The Journal of Clinical Endocrinology and Metabolism 88 (2003) 2699-2705
81. Kilby M.D., Gittoes N., McCabe C., et al. Expression of thyroid receptor isoforms in the human fetal central nervous system and the effects of intrauterine growth retardation. Clinical Endocrinology 53 (2000) 469-477
82. Tomita Y., Ishiguro H., Shinagawa T., et al. Persistence of mild hyperthyrotropinemia after discontinuation of three-year course of low-dose L-thyroxine therapy in infants with borderline hypothyroidism. Endocrine Journal 50 (2003) 379-384
83. WiIliams F.L., Ogston S.A., van Toor H., et al. Serum thyroid hormones in preterm infants: associations with postnatal illnesses and drug usage. The Journal of Clinical Endocrinology and Metabolism 90 (2005) 5954-5963
84. Lucas A., Moley R., and Fewtrell M.S. Low triiodothyronine concentration in preterm infants and subsequent intelligence quotient at 8-year follow up. BMJ (Clinical Research Edition) 312 (1996) 1132-1133 (discussion 1133-34)
85. Valero P., Van Wassenaer A.G., de Vijlder J.J.M., et al. A randomized masked study of T3 plus T4 administration in preterm infants. Pediatric Research 55 (2004) 248-253
86. Bettendorf M. Effects of Intensive Neonatal Care on Thyroid Function. Journal of Pediatric Endocrinology and Metabolism : JPEM 20 Suppl 1 (2007) 127-129
87. Pereira D.N., and Procianoy R.S. Effect of perinatal asphyxia on thyroid-stimulating hormone and thyroid hormone levels. Acta Pædiatrica 92 (2003) 339-345
88. Schwarze C.P., Seibold-Weiger K., Wollmann H.A., et al. Thyroid Function in Healthy and Sick Preterm Infant's: Changes in TSH, T4, fT4 and T3 from Day 1 to 12. Journal of Pediatric Endocrinology and Metabolism : JPEM 20 Suppl 1 (2007) 135-141
89. Guibourdenche J., Noel M., Chevenne D., et al. Biochemical investigation of foetal and neonatal thyroid function using the ACS-180SE analyser: clinical application. Annals of Clinical Biochemistry 38 (2001) 520-526
90. Djemli A., Van Vliet G., Belgoudi J., et al. Reference intervals for free thyroxine, total triiodothyronine, thyrotropin and thyroglobulin for Quebec newborns, children and teenagers. Clinical Biochemistry 37 (2004) 328-330
91. Grüters A. Diagnostic tests of thyroid function in children and adolescents. In: Ranke M.B. (Ed). Diagnostics of endocrine function in children and adolescents (2003), Karger, Basel 93-106
92. Clark S.J., Deming D.D., Emery J.R., et al. Reference ranges for thyroid function tests in premature infants beyond the first week of life. Journal of Perinatology 21 (2001) 531-536
93. Stockigt J.R. Free Thyroid hormone measurement-a critical appraisal. Endocrinology and Metabolism Clinics of North America 30 (2001) 265-289
94. Sapin R. Serum thyroxine binding capacity-dependent bias in five free thyroxine immunoassays: assessment with serum dilution experiments and impact on diagnostic performance. Clinical Biochemistry 34 (2001) 367-371
95. Nelson J.C., Wang R., Asher D.T., et al. Underestimates and overestimates of total thyroxine concentrations caused by unwanted thyroxine-binding protein effects. Thyroid 15 (2005) 12-15
96. Toldy E., Locsei Z., Szabolcs I., et al. Protein interference in thyroid assays: an in vitro study with in vivo consequences. Clinica Chimica Acta 352 (2005) 93-104
97. Kahric-Janicic N., Soldin S.J., Soldin O.P., et al. Tandem mass spectrometry improves the accuracy of free thyroxine measurements during pregnancy. Thyroid 17 (2007) 303-311