ТИРОНЕТ – все о щитовидной железе Для специалистов Журнал Тиронет Архив журнала 2002 год № 4

Врожденный гипотиреоз

Thyroid international 3 – 2002
Дельберт А. Фишер (Delbert A. Fisher, M.D.), Сан Хуан Капистрано, Калифорния, США
Русский перевод к.м.н. Фадеева В.В. (примечания и комментарии переводчика отмечены*)



ЛИТЕРАТУРА

  1. Curling T.B. Two cases of absence of the thyroid body and symmetrical swelling of fat tissue at sides of neck with defective cerebral development. // Med Chirurg Tr – 1850 – Vol. 33. – P. 303 – 306.
  2. Smith D.W., Blizzard R.M., Wilkins L. The mental prognosis in hypothyroidism of infancy and childhood. // Pediatrics – 1957 – Vol. 19. – P. 1011 – 1022.
  3. Klein A.H., Meltzer S., Kenney F.H. Improved prognosis in congenital hypothyroidism treated before 3 months. // J Pediatr – 1972 – Vol. 89. – P. 912–915.
  4. Fisher D.A., Odell W.D., Hobel C., Garza R. Thyroid function in the term fetus. // Pediatrics – 1969 – Vol. 44. – P. 526 – 535.
  5. Fisher D.A., Hobel C.J., Garza R., Pierce C. Thyroid function in the preterm fetus. // Pediatrics – 1970 – Vol. 46. – P. 208 – 216.
  6. Dussault J.H., Hobel C.J., Fisher D.A.. Maternal and fetal thyroxine secretion during pregnancy in the sheep. // Endocrinology – 1971 – Vol. 88. – P. 47–51.
  7. Fisher D.A., Dussault J.H., Erenberg A., Lam R.W. Thyroxine and triiodothyronine metabolism in maternal and fetal sheep. // Pediatr Res – 1972 – Vol. 6. – P. 894 – 899.
  8. Fisher D.A., Dussault J.H., Sack J., Chopra I.J. Ontogenesis of hypothalamic–pituitary thyroid function and metabolism in man, sheep, and rat. // Rec Prog Horm Res – 1977 – Vol. 33. – P. 59 – 116.
  9. Fisher D.A., Oddie T.H. Neonatal thyroidal hyperactivity: A response to cooling. // Am J Dis Child – 1964 – Vol. 107. – P. 574 – 581.
  10. Fisher D.A., Odell W.D. Acute release of thyrotropin in the newborn. // J Clin Invest – 1969 – Vol. 48. – P. 1670 – 1677.
  11. Erenberg A., Phelps D., Lam R., Fisher D.A. Total and free thyroid hormone concentrations in the neonatal period. // Pediatrics – 1974 – Vol. 53. – P. 211–216.
  12. Fisher D.A., Sack J. Thyroid function in the neonate and possible approaches to newborn screening for hypothyroidism. In Fisher D.A., Burrow G.N. Eds., Perinatal thyroid physiology and disease - Raven Press, New York, 1975. – P. 197–209.
  13. Dussault J.H., Laberge C. Dosage de la thyroxine (T4) par methode de depistage de l'hypothyroidie neonatale. // Union Med Can – 1973 – Vol. 102. – P. 2062–2064.
  14. Klein A.H., Agustin A.V., Foley T.P. Successful laboratory screening for congenital hypothyroidism. // Lancet – 1974 – Vol. 2. – P. 77–79.
  15. Walfish P.G. Screening for neonatal hypothyroidism using cord serum T4 measurements: comparisons to neonatal capillary dried blood thyroxine screening methods, in Fisher D.A., Burrow G.N. Perinatal thyroid physiology and disease. - Raven Press, New York, 1975. – P. 263–269.
  16. Winkler M., Camus M., Delange F. Screening for congenital hypothyroidism. // Proc European Society Pediatr Endocrinol – 1974 – P. 31.
  17. Dussault J.H., Coulombe P., Laberge C., Letarte J., Guyda H., Khoury K. Preliminary report on a mass screening program for neonatal hypothyroidism. // J Pediatr – 1975. – Vol. 86. – P. 670 – 674.
  18. Dussault J.H., Parlow A., Letarte J., Guyda H., Laberge C. TSH measurements from blood spots on filter paper: A confirmatory screening test for congenital hypothyroidism. // J Pediatr – 1976 – Vol. 89. – P. 550–552.
  19. Larsen P.R., Mecker A., Parlow A.F. Immunoassay of human TSH using dried blood samples. // J Clin Endocrinol Metab – 1976 – Vol. 42 – P. 987 – 990.
  20. Fisher D.A., Dussault J.H., Foley T.P., Klein A.H., La Franchi S., Larsen P.R., Mitchell M.L., Murphey W.H., Walfish P.G. Screening for congenital hypothyroidism: results of screening one million North American infants. // J Pediatr – 1979 – Vol. 94. – P. 700 – 705.
  21. Delange F., Beckers C., Hofer R., Konig M.P., Monaco F., Varrone S. Progress report on neonatal screening for congenital hypothyroidism in Europe. In Neonatal Thyroid Screening, Burrow G.N., Dussault J.H., Eds. - Raven Press, New York, 1980. – P. 107–131.
  22. Delange F. Neonatal screening for congenital hypothyroidism: Results and perspective. // Horm Res – 1997 – Vol. 48. – P. 51 – 61.
  23. La Franchi S. Congenital hypothyroidism: Etiologies, diagnosis and management. // Thyroid – 1999 – Vol. 7. – P. 735–740.
  24. Fisher D.A. Disorders of the thyroid in the newborn and infant, in Sperling M.A., Ed. Pediatric Endocrinology. - WB Saunders, 2002 (in press).
  25. Derksen-Lubson G., Verkerk P.H. Neuropsychological development in early treated congenital hypothyroidism: Analysis of literature data. // Pediatric Res – 1996 – Vol. 39. – P. 561 – 566.
  26. Salerno M., Militerni R., Bravaccio C., Micillo M., Capalbo D., DiMaio S., Tenore A. Effect of different starting doses of levothyroxine on growth and intellectual outcome at four years of age in congenital hypothyroidism. // Thyroid – 2002 – Vol. 12. – P. 45–52.
  27. Bongers-Schokking J.J., Koot H.M., Wiersma D., Verkerk P.H., De Muinck-Schrama S. Influence of timing and dose of thyroid replacement on development in infants with congenital hypothyroidism. // J Pediatr – 2000 – Vol. 136 – P. 292 – 297.
  28. Connelly J.F., Rickards A.L., Coakley J.C., Price G.J., Francis I., Mathur K.S., Wolfe R. Newborn screening for congenital hypothyroidism, Victoria, Australia, 1977–1997, Part 2 Treatment progress and outcome. // J Pediatr Endocrinol Metab – 2001 – Vol. 14. – P. 1611–1634.
  29. Van Vliet G. Neonatal hypothyroidism: treatment and outcome. // Thyroid – 1999 – Vol. 9. – P. 79 – 84.
  30. Castanet M., Polak M. Bonaiti-Pellie, Lyonnet S., Chernichow 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 – Vol. 86. – P. 2009 – 2014.
  31. Macchia P.E., De Felice M., Di Lauro R. Molecular genetics of congenital hypothyroidism. // Curr Opin Gen Devel – 1999 – Vol. 9. – P. 289 – 294.
  32. Oakley G.A., Muir T., Ray M., Girdwood R., Kennedy R., Donaldson M. Increased incidence of congenital malformations in children with transient thyroid-stimulating hormone elevation on neonatal screening. // J Pediatr – 1998 – Vol. 132. – P. 726 – 730.
  33. Harada S., Ichihara N., Fujieda K., Okuna A. Down syndrome with thyroid dysfunction detected by neonatal screening for congenital hypothyroidism. // Clin Pediatr Endocrinol – 1995 – Vol. 4. – P. 115–122.
  34. Weber G., Vigone M.C., Rapa A., Bona G., Chiumello G. Neonatal transient hypothyroidism: aetiological study. // Arch Dis Child – Fetal Neonatal Ed. – 1998 - Vol. 79. – F. 70–72.
  35. Brown R., Bellisario R., Botero D., Fournier L., Abrams C.A., Cowger M.L., David R., Fort P., Richman R.A. Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor blocking antibodies in over one million babies. // J Clin Endocrinol Metab – 1996 – Vol. 81. – P. 1147 – 1151.
  36. Tyfield L.A., Abusrewil S., Jones S.R., Savage D. Persistent hyperthyrotropinemia since the neonatal period in clinically euthyroid children. // Eur J Pediatr – 1991 – Vol. 150. – P. 308 – 309.
  37. Nose O., Miyai K., Yabuuchi H., Harada T. Transient infantile hyperthyrotropinemia. // Arch Dis Childh – 1989 – Vol. 64. – P. 177–182.
  38. Fisher D.A. Thyroid disorders, in Rimoin D.L., Connor J.M., Pyeritz R.E., Korf B.R., Eds., Principles and Practice of Medical Genetics. - Churchill Livingstone, London, 4th Ed, 2002. – P. 2183–2202.
  39. Bakker B., Bikker H., Vulsma T., De Randamic J., Wiedijk B.M., De Vijlder J. Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update) // J Clin Endocrinol Metab – 2000 – Vol. 85. – P. 3708 – 3712.
  40. Bidart J.M., Mian C., Lazar V., Russo D., Filetti S., Caillou B., Schlumberger M. Expression of Pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. // J Clin Endocrinol Metab – 2000 – Vol. 85. – P. 2028–2033.
  41. Corvilain B., Van Sande J., Dumont J.E., Vassart G. Somatic and germline mutations of the TSH receptor and thyroid diseases. // Clin Endocrinology – 2001 – Vol. 55. – P. 143–158.
  42. Roessler E., Belloni E., Gandenz K., Jay P., Berta P. Mutations in the human sonic hedgehog gene cause holoprosencephaly. // Nature Genetics – 1996 – Vol. 14. – P. 357–360.
  43. Wallis D.E., Roessler E., Hehr U., Nanni L., Wiltshire T., Richieri-Costa A., Gillessen-Kaesbach G., Zackai E.H., Rommens J., Muenke M. Mutations in the homeodomain of the human SIX-3 gene cause holoprosencephaly. // Nature Genetics – 1999 – Vol. 22. – P. 196 – 198.
  44. Brown S.A., Warburton D., Brown L.Y., Chih-yu Y., Roeder E.R., Stengel-Rutkowski S., Hennekam R., Muenke M. Holoprosencephaly due to mutation in ZIC-2, a homologue of drosophila odd paired. // Nature Genetics – 1998 – Vol. 20. – P. 180–183.
  45. Dattani M.T., Martinez-Barbera J.P., Thomas P.Q., Brickman J.M., Gupta R., Krauss S., Wales J., Hindmarsh P.C., Beddington R., Robinson I. HESX-1: a novel homeobox gene implicated in septo-optic dysplasia. // Horm Res – 1998 – Vol. 50 (suppl 3), Abstr 06.
  46. Lanctot C., Gauthier Y., Drouin J. Pitutiary homeobox (Ptx-1) is differentailly expressed during pituitary development. // Endocrinology – 1999 – Vol. 140 – P. 1416–1422.
  47. Fisher D.A., Brown R.S. Thyroid physiology in the perinatal period and during childhood In Braverman L.E., Utiger R.D. Eds., The thyroid: A fundamental and clinical text. - Lippincott Williams and Wilkins, Philadelphia 8th Ed., 2000. – P. 959 – 972.
  48. Pohlenz J., Dumitrescu A., Aumann U., Koch G., Malchior R., Prawitt D., Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSH subunit gene. // J Clin Endocrinol Metab – 2002 – Vol. 87. – P. 336–339.
  49. Fisher D.A. Management of congenital hypothyroidism. // J Clin Endocrinol Metab – 1991 – Vol. 72. – P. 523 – 529.
  50. Calvo R., Obregon M.J., Ruiz de Ono C., Escobar Del Rey F., Morreale de Escobar G. Congenital hypothyroidism as studied in rats: crucial role of maternal thyroxine but not of 3,5,3' triiodothyronine in the protection of the fetal brain. // J Clin Invest – 1990 – Vol. 86. – P. 889 – 899.
  51. Fisher D. The importance of early management in optimizing IQ in infants with congenital hypothyroidism (Letter). // J Pediatrics – 2000 – Vol. 126 – P. 273–274.