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Standards of Care Needed to Optimize Outcomes for Turner Syndrome

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Therapeutic Outcome of Endocrine Disorders

Part of the book series: Serono Symposia USA ((SERONOSYMP))

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Abstract

Comprehensive guidelines for optimizing the outcomes for girls with Turner syndrome (TS) have been proposed (1–8). Much credit is owed to the advocacy positions taken by the TS Societies and their strong endorsement of clinical studies carried out by pediatric endocrinologists, psychologists, and geneticists. These collaborative efforts have resulted in significant advances in our understanding of the scope of the problems that may be encountered by girls with TS. They have also, led to the development of effective new treatment strategies. Credit must also be given to the parents of these children without whom our knowledge base would be incomplete.

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References

  1. Nielsen J. What more can be done for girls and women with Turner’s syndrome and their parents? Acta Paediatr Scand 1989; 356(suppl): 93–100.

    Article  CAS  Google Scholar 

  2. Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin N Am 1990; 37: 1421–40.

    CAS  Google Scholar 

  3. Lippe B. Turner syndrome. Endocrinol Metab Clin N Am 1991; 20: 121–51.

    CAS  Google Scholar 

  4. Saenger P. The current status of diagnosis and therapeutic intervention in Turner syndrome. J Clin Endocrinol Metab 1993; 77: 297–301.

    Article  PubMed  CAS  Google Scholar 

  5. Rosenfeld R, Tesch L-G, Rodriguez-Rigau LJ, McCauley E, Albertsson-Wikland K, Asch R, et al. Recommendations for diagnosis, treatment, and management of individuals with Turner syndrome. Endocrinologist 1994; 4: 351–58.

    Article  Google Scholar 

  6. Committee on Genetics, Academy of Pediatrics. Health supervision for children with Turner syndrome. Pediatrics 1995; 96: 1166–73.

    Google Scholar 

  7. Sybert VP. The adult patient with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 205–18.

    Google Scholar 

  8. Doherty L, Brown DM, Ainslie M, Eugster E, Hirsch B, Kashtan C, et al. Turner syndrome practice guidelines. Endocrinologist 1997; 7: 443–7.

    Article  Google Scholar 

  9. Page DC. Hypothesis: a Y-chromosome gene causes gonadoblastoma in dysgenetic gonads. Development 1987; 101(suppl): 151–55.

    PubMed  Google Scholar 

  10. Page DC. Y chromosome sequences in Turner syndrome and risk of gonadoblastoma or virilization. Lancet 1994:343: 240.

    Article  PubMed  CAS  Google Scholar 

  11. Kocova M, Siegel SF, Lee PA, Trucco M. Detection of Y chromosome sequences in Turner syndrome by Southern blot analyses of amplified DNA. Lancet 1993; 342: 140–43.

    Article  PubMed  CAS  Google Scholar 

  12. Kocova M, Witchel SF, Nalesnik M, Lee PA, Dickman PS, MacGillivray MH, et al. Y chromosomal sequences identified in gonadal tissue of two 45,X patients with Turner syndrome. Endocrinol Pathol 1996; 6: 311–21.

    Article  Google Scholar 

  13. Binder G, Koch A, Wajs E, Ranke MB. Evaluation of “hidden Y-chromosome”in Turner syndrome (TS): a review of screening results. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: Research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 25–32.

    Google Scholar 

  14. Rochiccioli P, David M, Malpuech G, Colle M, Limai JM, Battin J, et al. Study of final height in Turner syndrome: ethnic and genetic influences. Acta Pediatr 1994; 83: 305–8.

    Article  CAS  Google Scholar 

  15. Hamill PVV, Drizd TA, Johnson CL, Reed RB, Roche AF, Moore WM. Physical growth: National Center for Health Statistics percentiles. Am J Clin Nutrition 1979; 32: 607–29.

    CAS  Google Scholar 

  16. Lippe BM, Plotnick LP, Attie KM, Frane J. Growth in Turner syndrome: updating the United States experience. In: Hibi I, Takano K, eds. Basic and clinical approach to Turner syndrome. Amsterdam: Elsevier Science Publishers, 1993: 77–82.

    Google Scholar 

  17. Rosenfeld RG, Attie K, Frane J, Johanson A and the Genentech Study Group. Turner syndrome: optimizing treatment for short stature. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 87–88.

    Google Scholar 

  18. Nilsson KO, Albertsson-Wikland K, Aim J, Aronson S, Gustafsson J, Hagenäs L, et al. Growth promoting treatment in girls with Turner syndrome: final height results according to three different Turner syndrome growth standards. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 89–94.

    Google Scholar 

  19. Stahnke N, Attanasio A, van den Broeck J, Partsch CJ, Zeisel HJ. GH treatment studies to final height in girls with Turner syndrome—the German experience. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 95–104.

    Google Scholar 

  20. Werther G A, Dietsch S. Multicentre trial of synthetic growth hormone and low dose oestrogen in Turner syndrome: analysis of final height. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 105–12.

    Google Scholar 

  21. Takano K, Ogawa M, Okada Y, Tanaka T, Tachibana K, Hizuka N, et al. Final height and long-term effects after growth hormone therapy in Turner syndrome: results of a 6-year multicentre study in Japan. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 113–22.

    Google Scholar 

  22. Rochiccioli P, Chaussain JL. Final height in patients with Turner syndrome treated with growth hormone (n =117). In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 123–28.

    Google Scholar 

  23. The Italian Study Group for Turner syndrome (ISGTS). Spontaneous growth and results of growth hormone therapy in patients with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 129–36.

    Google Scholar 

  24. Heinrichs C, De Schepper J, Thomas M, Massa G, Craen M, Malvaux P, et al. Final height in 46 girls with Turner syndrome treated with growth hormone in Belgium: evaluation of height recovery and predictive factors. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 137–48.

    Google Scholar 

  25. Tillmann V, Price DA, Bucknall JL, Clayton PE. Experience within the Manchester Growth Clinic of growth hormone treatment of girls with Turner syndrome: the influence of duration of treatment on final height. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 149–54.

    Google Scholar 

  26. Massa G, van den Broeck, Attanasio A, Wit JM on behalf of the Lilly European Turner Study Group. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 155–60.

    Google Scholar 

  27. Karlberg J, Albertsson-Wikland. Natural growth and aspects of growth standards in Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 75–86.

    Google Scholar 

  28. Ranke MB, Price DA, Maes M, Albertsson-Wikland K, Lindberg A. Factors influencing final height in Turner syndrome following GH treatment: results of the Kabi International Growth Study (KIGS). In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 161–66.

    Google Scholar 

  29. Hintz RL, Attie KM, Compton PG, Rosenfeld RG. Multifactorial studies of GH treatment of Turner syndrome: the Genentech national cooperative growth study. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 167–74.

    Google Scholar 

  30. Attie KM, Chernausek S, Frane J, Rosenfeld RG for the Genentech Study Group. Growth hormone use in Turner syndrome;a preliminary report on the effect of early vs. delayed estrogen. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 175–81.

    Google Scholar 

  31. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54–63.

    Article  PubMed  CAS  Google Scholar 

  32. Rubin KR. Osteoporosis in Turner syndrome. In: Rosenfeld RG, Grumbach MM, eds. Turner Syndrome. New York: Marcel Dekker Publishers, 1990: 301–17.

    Google Scholar 

  33. Bachrach LK. Osteopenis in Turner girls. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 233–40.

    Google Scholar 

  34. Sylvén L, Hagenfeldt K, Ringertz H. Impact of hormonal replacement therapy on bone mineral density in women with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 241–48.

    Google Scholar 

  35. Ross JL, Meyerson LL, Feuillan P, Cassorla F, Cutler GB Jr. Normal bone density of the wrist and spine and increased wrist fractures in girls with Turner syndrome. J Clin Endocrinol Metab 1991; 73: 355–59.

    Article  PubMed  CAS  Google Scholar 

  36. Neely EK, Marcus R, Rosenfeld RG, Bachrach LK. Turner syndrome adolescents receiving growth hormone are not osteopenic. J Clin Endocrnol Metab 1993; 76: 861–66.

    Article  CAS  Google Scholar 

  37. Kirkland RT, Lin T-H, LeBlanc AD, Kirkland JL. Effects of hormonal therapy on bone mineral density in Turner syndrome. In: Rosenfeld RG, Grumbach MM, eds. Turner syndrome. New York: Marcel Dekker Publishers, 1990: 319–25.

    Google Scholar 

  38. Neely EK. Estrogen for feminization: a review. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 219–26.

    Google Scholar 

  39. Rosenfield RL, Perovic N, Devine N, Mauras N, Moshang T, Root A, et al. Optimizing estrogen therapy for Turner syndrome. National Cooperative Growth Study Meeting abstract;1997, p. 8, Sept. 25-28, Washington D.C.

    Google Scholar 

  40. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G on behalf of the Italian Study Group for Turner’s Syndrome. Spontaneous pubertal development in Turner’s syndrome. J Clin Endocrinol Metab 1997; 82: 1810–13.

    Article  PubMed  CAS  Google Scholar 

  41. Mezzanti L, Cacciari E, Bergamaschi R, Tassmari D, Magnani C, Perri A, et al. Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes. J Pediatr 1997; 131: 135–40.

    Article  Google Scholar 

  42. Kocova M, Siegel SF, Wenger SL, Lee PA, Trucco M. Y chromosome sequences in Turner syndrome: detection by Southern blot analysis of amplified DNA. Lancet 1993; 342: 140–43.

    Article  PubMed  CAS  Google Scholar 

  43. Kocova K, Witchel S, Nalesnik M, Lee PA, Dickman PS, MacGillivray MH, et al. Y chromosomal sequences identified in gonadal tissue of two 45,X patients with Turner syndrome. Endocrine Pathol 1995; 6: 311–21.

    Article  CAS  Google Scholar 

  44. Anderson H, Filipsson E, Fluur B. Hearing impairment in Turner’s syndrome. Acta Otolaryngol 1969; 247(suppl): 1–26.

    Google Scholar 

  45. Sculerati N, Ledesma-Medina J, Finegold DN, Stool SE. Otitis media and hearing loss in Turner syndrome. Arch Otolaryngol Head Neck Surg 1990; 116: 704–7.

    Article  PubMed  CAS  Google Scholar 

  46. Hultcrantz M, Sylvén L. Hearing problems in women with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 249–58.

    Google Scholar 

  47. Lessell S, Forbes AP. Eye signs in Turner’s syndrome. Arch Ophthalmol 1966; 76: 211–13.

    Article  PubMed  CAS  Google Scholar 

  48. Adhikary HP. Ocular manifestation of Turner’s syndrome. Trans Ophthal Soc UK 1981; 101: 395–96.

    PubMed  Google Scholar 

  49. Chrousos GA, Ross JL, Chrousos G, Chu F, Kenigsberg D, Cutler G, et al. Ocular findings in Turner syndrome: a prospective study. Ophthalmology 1984; 91: 926–28.

    PubMed  CAS  Google Scholar 

  50. Mazzanti L, Prandstraller D, Tassinari D, Rubino I, Santucci S, Picchio M, et al. Heart disease in Turner’s syndrome. Helv Paediat Acta 1988; 43: 25–31.

    PubMed  CAS  Google Scholar 

  51. Krag-Olsen B, Gøtzsche C-O, Nielsen J, Sørensen KE, Kristensen Bø. Cardiovascular malformations in Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 263–73.

    Google Scholar 

  52. Van derscheuren-Lodeweyskx M. Autoimmunity problems in Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 267–74.

    Google Scholar 

  53. Neufeld ND, Lippe B, Sperling MA. Carbohydrate (CHO) intolerance in gonadal dysgenesis (GD): a new model of insulin resistance. Diabetes 1976; 25(suppl): 379.

    Google Scholar 

  54. Caprio S, Boulware S, Diamond M, Sherwin RS, Carpenter TO, Rubin K, et al. Insulin resistance: an early metabolic defect of Turner syndrome. J Clin Endocrinol Metab 1991; 72: 832–36.

    Article  PubMed  CAS  Google Scholar 

  55. Caprio S, Tamborlane WV. In vivo study on insulin action in children with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 275–84.

    Google Scholar 

  56. Wilson DM, Frane JW, Sherman B, Johanson AJ, Hintz R, Rosenfeld RG, et al. Carbohydrate and lipid metabolism in Turner syndrome: effect of therapy with growth hormone, oxandrolone, and a combination of both. J Pediatr 1988; 112: 210–17.

    Article  PubMed  CAS  Google Scholar 

  57. Forbes AP, Engel B. The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis and their close relatives. Metabolism 1963; 12: 420–36.

    Google Scholar 

  58. Nielson J, Johansen K, Yale H. The frequency of diabetes mellitus in patients with Turner syndrome and pure gonadal dysgenesis. Acta Endocrinol (Copenh) 1969; 62: 251–58.

    Google Scholar 

  59. Rovet J, Netley C. Processing deficits in Turner syndrome. Dev Psychol 1982; 18: 77–94.

    Article  Google Scholar 

  60. Rovet JF. Behavioural manifestations of Turner syndrome in children: a unique pheno-type? In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 285–96.

    Google Scholar 

  61. McCauley E, Kay T, Ito J, Trider R. The Turner syndrome: cognitive deficits, affective discrimination and behavior problems. Child Develop 1985; 58: 464–73.

    Article  Google Scholar 

  62. Ross JL, Roeltgen D, Cutler GB Jr. The neurodevelopmental transition between childhood and adolescence in girls with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life span perspective: research and clinical aspects. Amsterdam: Elsevier Science Publishers, 1995: 297–308.

    Google Scholar 

  63. Ross JL, McCauley E, Roeltgen D, Long L, Kushner H, Feuillan P, et al. Self-concept and behavior in adolescent girls with Turner syndrome: potential estrogen effects. J Clin Endocrinol Metab 1996; 81: 926–31.

    Article  PubMed  CAS  Google Scholar 

  64. Rovet J, Holland J. Psychological aspects of the Canadian randomized controlled trial if human growth hormone and low-dose enthinyl oestradiol in children with Turner syndrome. Horm Res 1993; 39(suppl 2): 60–64.

    Article  PubMed  Google Scholar 

  65. Stabler B, Clopper RR, Siegel PT, Stoppani CE, Compton PG. Behavior change in patients with Turner syndrome undergoing growth hormone therapy. In: Rovet JF, ed. Turner syndrome across the lifespan. Markham Ontario: Klein Graphics, 1994: 81–90.

    Google Scholar 

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Authors
  1. Margaret H. MacGillivray
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  2. Tom Mazur
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Editors and Affiliations

  1. Department of Psychiatry School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA

    Brian Stabler Ph.D.

  2. Department of Pediatrics College of Medicine, University of South Florida, All Children’s Hospital, St. Petersburg, FL, 33701, USA

    Barry B. Bercu M.D.

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MacGillivray, M.H., Mazur, T. (2000). Standards of Care Needed to Optimize Outcomes for Turner Syndrome. In: Stabler, B., Bercu, B.B. (eds) Therapeutic Outcome of Endocrine Disorders. Serono Symposia USA. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-1230-0_9

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  • DOI: https://doi.org/10.1007/978-1-4612-1230-0_9

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4612-7052-2

  • Online ISBN: 978-1-4612-1230-0

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