Table of Contents
Advances in Endocrinology
Volume 2014 (2014), Article ID 231089, 9 pages
http://dx.doi.org/10.1155/2014/231089
Review Article

Recent Developments in Diagnosis and Care for Girls in Turner Syndrome

National Institute of Child Health and Human Development, National Institutes of Health, CRC 1-3330, 10 Center Dr, NIH, Bethesda, MD 20892, USA

Received 8 May 2014; Accepted 9 September 2014; Published 16 November 2014

Academic Editor: Klaus Brusgaard

Copyright © 2014 Carolyn Bondy. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. A. Bondy, “Clinical practice guideline: care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group,” Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 1, pp. 10–25, 2007. View at Publisher · View at Google Scholar · View at Scopus
  2. E. B. Hook and D. Warburton, “Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss,” Human Genetics, vol. 133, no. 4, pp. 417–424, 2014. View at Publisher · View at Google Scholar · View at Scopus
  3. P. A. Jacobs and T. J. Hassold, “The origin of numerical chromosome abnormalities,” in Advances in Genetics, J. Hall, J. Dunlap, T. Friedmann et al., Eds., vol. 33, pp. 101–133, Academic Press, 1995. View at Google Scholar
  4. J. Lange, H. Skaletsky, S. K. M. van Daalen et al., “Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes,” Cell, vol. 138, no. 5, pp. 855–869, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. T. Ogata and N. Matsuo, “Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features,” Human Genetics, vol. 95, no. 6, pp. 607–629, 1995. View at Google Scholar · View at Scopus
  6. F. J. Probst, M. L. Cooper, S. W. Cheung, and M. J. Justice, “Genotype, phenotype, and karyotype correlation in the XO mouse model of turner syndrome,” Journal of Heredity, vol. 99, no. 5, pp. 512–517, 2008. View at Publisher · View at Google Scholar · View at Scopus
  7. W. Li, X. Wang, W. Fan et al., “Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes,” Human Molecular Genetics, vol. 21, no. 1, pp. 32–45, 2012. View at Publisher · View at Google Scholar · View at Scopus
  8. A. Urbach and N. Benvenisty, “Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells,” PLoS ONE, vol. 4, no. 1, Article ID e4175, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. R. J. Blaschke and G. A. Rappold, “SHOX: growth, leri-weill and turner syndromes,” Trends in Endocrinology & Metabolism, vol. 11, no. 6, pp. 227–230, 2000. View at Publisher · View at Google Scholar · View at Scopus
  10. A. R. Zinn, D. Roeltgen, G. Stefanatos et al., “A turner syndrome neurocognitive phenotype maps to Xp22.3,” Behavioral and Brain Functions, vol. 3, article 24, 2007. View at Publisher · View at Google Scholar · View at Scopus
  11. C. Bondy, V. K. Bakalov, C. Cheng, L. Olivieri, D. R. Rosing, and A. E. Arai, “Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in turner syndrome,” Journal of Medical Genetics, vol. 50, no. 10, pp. 662–665, 2013. View at Publisher · View at Google Scholar · View at Scopus
  12. G. A. Rappold, “The pseudoautosomal regions of the human sex chromosomes,” Human Genetics, vol. 92, no. 4, pp. 315–324, 1993. View at Publisher · View at Google Scholar · View at Scopus
  13. G. A. Rappold, M. Fukami, B. Niesler et al., “Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature,” Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 3, pp. 1402–1406, 2002. View at Publisher · View at Google Scholar · View at Scopus
  14. R. Ganapathy, M. Guven, F. Sethna, U. Vivekananda, and B. Thilaganathan, “Natural history and outcome of prenatally diagnosed cystic hygroma,” Prenatal Diagnosis, vol. 24, no. 12, pp. 965–968, 2004. View at Publisher · View at Google Scholar · View at Scopus
  15. D. F. Gunther, E. Eugster, A. J. Zagar, C. G. Bryant, M. L. Davenport, and C. A. Quigley, “Ascertainment bias in turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life,” Pediatrics, vol. 114, no. 3, pp. 640–644, 2004. View at Publisher · View at Google Scholar · View at Scopus
  16. L. Telvi, A. Lebbar, O. Del Pino, J. P. Barbet, and J. L. Chaussain, “45,X/46,XY mosaicism: report of 27 cases,” Pediatrics, vol. 104, no. 2, pp. 304–308, 1999. View at Publisher · View at Google Scholar · View at Scopus
  17. L. Y. F. Hsu, “Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases,” American Journal of Medical Genetics, vol. 53, no. 2, pp. 108–140, 1994. View at Publisher · View at Google Scholar · View at Scopus
  18. D. D. Koeberl, B. McGillivray, and V. P. Sybert, “Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome,” The American Journal of Human Genetics, vol. 57, no. 3, pp. 661–666, 1995. View at Google Scholar · View at Scopus
  19. R. J. Wapner, C. L. Martin, B. Levy et al., “Chromosomal microarray versus karyotyping for prenatal diagnosis,” The New England Journal of Medicine, vol. 367, no. 23, pp. 2175–2184, 2012. View at Publisher · View at Google Scholar · View at Scopus
  20. P. Saenger, K. A. Wikland, G. S. Conway et al., “Recommendations for the diagnosis and management of Turner syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 86, no. 7, pp. 3061–3069, 2001. View at Publisher · View at Google Scholar · View at Scopus
  21. S. A. Rivkees, K. Hager, S. Hosono et al., “A highly sensitive, high-throughput assay for the detection of Turner syndrome,” The Journal of Clinical Endocrinology and Metabolism, vol. 96, no. 3, pp. 699–705, 2011. View at Publisher · View at Google Scholar · View at Scopus
  22. S. Prakash, D. Guo, C. L. Maslen et al., “Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome,” Genetics in Medicine, vol. 16, no. 1, pp. 53–59, 2014. View at Publisher · View at Google Scholar
  23. C. A. Bondy, H. Y. Hougen, J. Zhou, and C. M. Cheng, “Genomic imprinting and Turner syndrome,” Pediatric Endocrinology Reviews, vol. 9, supplement 2, pp. 728–732, 2012. View at Google Scholar · View at Scopus
  24. D. H. Skuse, R. S. James, D. V. M. Bishop et al., “Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function,” Nature, vol. 387, no. 6634, pp. 705–708, 1997. View at Publisher · View at Google Scholar · View at Scopus
  25. W. Davies, A. Isles, R. Smith et al., “Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice,” Nature Genetics, vol. 37, no. 6, pp. 625–629, 2005. View at Publisher · View at Google Scholar · View at Scopus
  26. A. S. Raefski and M. J. O'Neill, “Identification of a cluster of X-linked imprinted genes in mice,” Nature Genetics, vol. 37, no. 6, pp. 620–624, 2005. View at Publisher · View at Google Scholar · View at Scopus
  27. J.-F. Lepage, D. S. Hong, P. K. Mazaika et al., “Genomic imprinting effects of the X chromosome on brain morphology,” The Journal of Neuroscience, vol. 33, no. 19, pp. 8567–8574, 2013. View at Publisher · View at Google Scholar · View at Scopus
  28. P. L. Van, V. K. Bakalov, A. R. Zinn, and C. A. Bondy, “Maternal X chromosome, visceral adiposity, and lipid profile,” Journal of the American Medical Association, vol. 295, no. 12, pp. 1373–1374, 2006. View at Publisher · View at Google Scholar · View at Scopus
  29. K. Z. Abd-Elmoniem, V. K. Bakalov, J. R. Matta et al., “X chromosome parental origin and aortic stiffness in Turner syndrome,” Clinical Endocrinology, vol. 81, no. 3, pp. 467–470, 2014. View at Publisher · View at Google Scholar
  30. P. Polani, W. F. Hunter, and B. Lennox, “Chromosomal sex in Turner's syndrome with coarctation of the aorta,” The Lancet, vol. 264, no. 6829, pp. 120–121, 1954. View at Publisher · View at Google Scholar · View at Scopus
  31. V. P. Sybert, “Cardiovascular malformations and complications in Turner syndrome,” Pediatrics, vol. 101, no. 1, article E11, 1998. View at Google Scholar · View at Scopus
  32. S. C. Wong, T. Burgess, M. Cheung, and M. Zacharin, “The prevalence of turner syndrome in girls presenting with coarctation of the aorta,” The Journal of Pediatrics, vol. 164, no. 2, pp. 259–263, 2014. View at Publisher · View at Google Scholar · View at Scopus
  33. C.-O. Gotzsche, B. Krag-Olsen, J. Nielsen, K. E. Sorensen, and B. O. Kristensen, “Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome,” Archives of Disease in Childhood, vol. 71, no. 5, pp. 433–436, 1994. View at Publisher · View at Google Scholar · View at Scopus
  34. L. Mazzanti and E. Cacciari, “Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS),” Journal of Pediatric, vol. 133, no. 5, pp. 688–692, 1998. View at Google Scholar
  35. T. M. K. Völkl, K. Degenhardt, A. Koch, D. Simm, H. G. Dörr, and H. Singer, “Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome—the Erlangen experience,” Clinical Cardiology, vol. 28, no. 2, pp. 88–92, 2005. View at Publisher · View at Google Scholar · View at Scopus
  36. L. J. Olivieri, R. Y. Baba, A. E. Arai et al., “Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in turner syndrome,” Circulation: Cardiovascular Imaging, vol. 6, no. 6, pp. 1018–1023, 2013. View at Publisher · View at Google Scholar · View at Scopus
  37. V. Sachdev, L. A. Matura, S. Sidenko et al., “Aortic valve disease in Turner syndrome,” Journal of the American College of Cardiology, vol. 51, no. 19, pp. 1904–1909, 2008. View at Publisher · View at Google Scholar · View at Scopus
  38. H. K. Kim, W. Gottliebson, K. Hor et al., “Cardiovascular anomalies in turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population,” American Journal of Roentgenology, vol. 196, no. 2, pp. 454–460, 2011. View at Publisher · View at Google Scholar · View at Scopus
  39. V. B. Ho, V. K. Bakalov, M. Cooley et al., “Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features,” Circulation, vol. 110, no. 12, pp. 1694–1700, 2004. View at Publisher · View at Google Scholar · View at Scopus
  40. N. Chevalier, H. Letur, D. Lelannou et al., “Materno-fetal cardiovascular complications in turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome,” The Journal of Clinical Endocrinology & Metabolism, vol. 96, no. 2, pp. E260–E267, 2011. View at Publisher · View at Google Scholar · View at Scopus
  41. M. Carlson, N. Airhart, L. Lopez, and M. Silberbach, “Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in turner syndrome: report of the international turner syndrome aortic dissection registry,” Circulation, vol. 126, no. 18, pp. 2220–2226, 2012. View at Publisher · View at Google Scholar · View at Scopus
  42. C. H. Gravholt, K. Landin-Wilhelmsen, K. Stochholm et al., “Clinical and epidemiological description of aortic dissection in Turner's syndrome,” Cardiology in the Young, vol. 16, no. 5, pp. 430–436, 2006. View at Publisher · View at Google Scholar · View at Scopus
  43. K. H. Mortensen, B. E. Hjerrild, K. Stochholm et al., “Dilation of the ascending aorta in Turner syndrome—a prospective cardiovascular magnetic resonance study,” Journal of Cardiovascular Magnetic Resonance, vol. 13, no. 1, article 24, 2011. View at Publisher · View at Google Scholar · View at Scopus
  44. A. M. Pasquino, F. Passeri, I. Pucarelli, M. Segni, and G. Municchi, “Spontaneous pubertal development in turner's syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 6, pp. 1810–1813, 1997. View at Google Scholar · View at Scopus
  45. T. N. Hadnott and C. A. Bondy, “Risks of pregnancy for women with Turner syndrome,” Expert Review of Obstetrics & Gynecology, vol. 6, no. 2, pp. 217–227, 2011. View at Publisher · View at Google Scholar · View at Scopus
  46. O. Hovatta, “Pregnancies in women with Turner's syndrome,” Annals of Medicine, vol. 31, no. 2, pp. 106–110, 1999. View at Publisher · View at Google Scholar · View at Scopus
  47. T. N. Hadnott, H. N. Gould, A. M. Gharib, and C. A. Bondy, “Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience,” Fertility and Sterility, vol. 95, no. 7, pp. 2251–2256, 2011. View at Publisher · View at Google Scholar · View at Scopus
  48. J. G. Hreinsson, M. Otala, M. Fridström et al., “Follicles are found in the ovaries of adolescent girls with Turner's syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 8, pp. 3618–3623, 2002. View at Publisher · View at Google Scholar · View at Scopus
  49. B. Borgström, J. Hreinsson, C. Rasmussen et al., “Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles,” Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 1, pp. 74–80, 2009. View at Publisher · View at Google Scholar · View at Scopus
  50. M. Cools, R. P. A. Rooman, J. Wauters, Y. Jacqemyn, and M. V. L. Du Caju, “A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter,” Fertility and Sterility, vol. 82, no. 4, pp. 923–925, 2004. View at Publisher · View at Google Scholar · View at Scopus
  51. K. H. Mortensen, M. D. Rohde, N. Uldbjerg, and C. H. Gravholt, “Repeated spontaneous pregnancies in 45,X turner syndrome,” Obstetrics and Gynecology, vol. 115, no. 2, pp. 446–449, 2010. View at Publisher · View at Google Scholar · View at Scopus
  52. F. Wei, S. Cheng, N. Badie et al., “A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father,” American Journal of Medical Genetics, vol. 102, no. 4, pp. 353–358, 2001. View at Google Scholar
  53. K. Landin-Wilhelmsen, I. Bryman, C. Hanson, and L. Hanson, “Short communication: spontaneous pregnancies in a turner syndrome woman with Y-chromosome mosaicism,” Journal of Assisted Reproduction and Genetics, vol. 21, no. 6, pp. 229–230, 2004. View at Publisher · View at Google Scholar · View at Scopus
  54. M.-F. Portnoï, S. Chantot-Bastaraud, S. Christin-Maitre et al., “Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling,” European Journal of Medical Genetics, vol. 55, no. 11, pp. 635–640, 2012. View at Publisher · View at Google Scholar · View at Scopus
  55. L. Tarani, S. Lampariello, G. Raguso et al., “Pregnancy in patients with Turner's syndrome: six new cases and review of literature,” Gynecological Endocrinology, vol. 12, no. 2, pp. 83–87, 1998. View at Publisher · View at Google Scholar · View at Scopus
  56. A. Hagman, K. Källén, M.-L. Barrenäs et al., “Obstetric outcomes in women with turner karyotype,” Journal of Clinical Endocrinology & Metabolism, vol. 96, no. 11, pp. 3475–3482, 2011. View at Publisher · View at Google Scholar · View at Scopus
  57. K. H. Mortensen, L. Cleemann, B. E. Hjerrild et al., “Increased prevalence of autoimmunity in Turner syndrome—influence of age,” Clinical and Experimental Immunology, vol. 156, no. 2, pp. 205–210, 2009. View at Publisher · View at Google Scholar · View at Scopus
  58. A. Hagman, U.-B. Wennerholm, K. Källén et al., “Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics,” Human Reproduction, vol. 25, no. 6, pp. 1553–1560, 2010. View at Publisher · View at Google Scholar · View at Scopus
  59. M. F. Karnis, A. E. Zimon, S. I. Lalwani, L. S. Timmreck, S. Klipstein, and R. H. Reindollar, “Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey,” Fertility and Sterility, vol. 80, no. 3, pp. 498–501, 2003. View at Publisher · View at Google Scholar · View at Scopus
  60. L. Cabanes, C. Chalas, S. Christin-Maitre et al., “Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy,” European Journal of Obstetrics Gynecology and Reproductive Biology, vol. 152, no. 1, pp. 18–24, 2010. View at Publisher · View at Google Scholar · View at Scopus
  61. Practice Committee of American Society for Reproductive Medicine, “Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome,” Fertility and Sterility, vol. 97, no. 2, pp. 282–284, 2012. View at Publisher · View at Google Scholar