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Fertility Preservation for Turner Syndrome

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Turner Syndrome

Abstract

Premature ovarian insufficiency leading to ovarian failure is a major concern for women with Turner syndrome (TS). To address their concerns and needs, counseling about fertility options should begin early. Current nonexperimental options for family planning include adoption, oocyte donation, and gestational surrogacy. Spontaneous pregnancy is rare but has been reported. Oocyte cryopreservation may be an option for some women with TS, but to date, there are no reported pregnancies following this procedure. Ovarian tissue cryopreservation remains an experimental option but may not be readily accessible to all. Choices about whether and when to pursue fertility preservation are complicated by gaps in knowledge, the experimental nature of some procedures, possible risks (both known and unknown), and ethical considerations. Further studies focusing on the safety and efficacy of these procedures are essential. This necessitates adherence to proper experimental protocols, collaboration among centers, and continuing ethical interrogation.

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References

  1. Pasquino AM, et al. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s syndrome. J Clin Endocrinol Metab. 1997;82(6):1810–3.

    CAS  PubMed  Google Scholar 

  2. Negreiros LP, Bolina ER, Guimaraes MM. Pubertal development profile in patients with Turner syndrome. J Pediatr Endocrinol Metab. 2014;27(9–10):845–9.

    PubMed  Google Scholar 

  3. Abir R, et al. Turner’s syndrome and fertility: current status and possible putative prospects. Hum Reprod Update. 2001;7(6):603–10.

    Article  CAS  PubMed  Google Scholar 

  4. Hovatta O. Pregnancies in women with Turner’s syndrome. Ann Med. 1999;31(2):106–10.

    Article  CAS  PubMed  Google Scholar 

  5. Grynberg M, et al. Fertility preservation in Turner syndrome. Fertil Steril. 2016;105(1):13–9.

    Article  PubMed  Google Scholar 

  6. Mamsen LS, et al. Germ cell numbers in human embryonic and fetal gonads during the first two trimesters of pregnancy: analysis of six published studies. Hum Reprod. 2011;26(8):2140–5.

    Article  PubMed  Google Scholar 

  7. Modi DN, Sane S, Bhartiya D. Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads. Mol Hum Reprod. 2003;9(4):219–25.

    Article  CAS  PubMed  Google Scholar 

  8. Weiss L. Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner’s syndrome. J Med Genet. 1971;8(4):540–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Singh RP, Carr DH. The anatomy and histology of XO human embryos and fetuses. Anat Rec. 1966;155(3):369–83.

    Article  CAS  PubMed  Google Scholar 

  10. Oktay K, et al. Fertility preservation in women with turner syndrome: a comprehensive review and practical guidelines. J Pediatr Adolesc Gynecol. 2016;29(5):409–16.

    Article  PubMed  Google Scholar 

  11. Hagman A, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod. 2013;28(6):1598–609.

    Article  PubMed  Google Scholar 

  12. Broer SL, et al. Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications. Hum Reprod Update. 2014;20(5):688–701.

    Article  CAS  PubMed  Google Scholar 

  13. Weenen C, et al. Anti-Mullerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment. Mol Hum Reprod. 2004;10(2):77–83.

    Article  CAS  PubMed  Google Scholar 

  14. Visser JA, et al. Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment. Hum Reprod. 2013;28(7):1899–907.

    Article  CAS  PubMed  Google Scholar 

  15. Lunding SA, et al. AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 turner syndrome patients. J Clin Endocrinol Metab. 2015;100(7):E1030–8.

    Article  CAS  PubMed  Google Scholar 

  16. Borgstrom B, et al. Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocrinol Metab. 2009;94(1):74–80.

    Article  CAS  PubMed  Google Scholar 

  17. Kleinman E. Caring for our own: why American adoption law and policy must change. Columbia J Law Soc Probl. 1997;30:327.

    Google Scholar 

  18. State, U.S.D.o., Annual report on intercountry adoption, U.S.D.o. State, Editor. 2015.

    Google Scholar 

  19. Hadnott TN, et al. Outcomes of spontaneous and assisted pregnancies in turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril. 2011;95(7):2251–6.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Bernard V, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016;31(4):782–8.

    Article  PubMed  Google Scholar 

  21. Birkebaek NH, et al. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet. 2002;61(1):35–9.

    Article  CAS  PubMed  Google Scholar 

  22. Bryman I, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011;95(8):2507–10.

    Article  PubMed  Google Scholar 

  23. Foudila T, Soderstrom-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999;14(2):532–5.

    Article  CAS  PubMed  Google Scholar 

  24. Lutjen P, et al. The establishment and maintenance of pregnancy using in vitro fertilization and embryo donation in a patient with primary ovarian failure. Nature. 1984;307(5947):174–5.

    Article  CAS  PubMed  Google Scholar 

  25. Alvaro Mercadal B, et al. Pregnancy outcome after oocyte donation in patients with Turner’s syndrome and partial X monosomy. Hum Reprod. 2011;26(8):2061–8.

    Article  CAS  PubMed  Google Scholar 

  26. Yaron Y, et al. Patients with Turner’s syndrome may have an inherent endometrial abnormality affecting receptivity in oocyte donation. Fertil Steril. 1996;65(6):1249–52.

    Article  CAS  PubMed  Google Scholar 

  27. Practice Committees of American Society for Reproductive, M. and T. Society for Assisted Reproductive. Mature oocyte cryopreservation: a guideline. Fertil Steril. 2013;99(1):37–43.

    Article  Google Scholar 

  28. Oktay K, Rodriguez-Wallberg KA, Sahin G. Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure. Fertil Steril. 2010;94(2):753 e15–9.

    Article  Google Scholar 

  29. Oktay K, Bedoschi G. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments. J Pediatr Adolesc Gynecol. 2014;27(6):342–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Huang JY, et al. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: case report. Hum Reprod. 2008;23(2):336–9.

    Article  CAS  PubMed  Google Scholar 

  31. Donnez J, Dolmans MM. Ovarian cortex transplantation: 60 reported live births brings the success and worldwide expansion of the technique towards routine clinical practice. J Assist Reprod Genet. 2015;32(8):1167–70.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Demeestere I, et al. Live birth after autograft of ovarian tissue cryopreserved during childhood. Hum Reprod. 2015;30(9):2107–9.

    Article  PubMed  Google Scholar 

  33. Donnelly L. Woman gives birth to baby using ovary frozen in her childhood in ‘world first’, in The Telegraph. 2016.

    Google Scholar 

  34. Hreinsson JG, et al. Follicles are found in the ovaries of adolescent girls with Turner’s syndrome. J Clin Endocrinol Metab. 2002;87(8):3618–23.

    CAS  PubMed  Google Scholar 

  35. Schleedoorn MJ, et al. To freeze or not to freeze? An update on fertility preservation in females with Turner syndrome. Pediatr Endocrinol Rev. 2019;16(3):369–82.

    CAS  PubMed  Google Scholar 

  36. Rappaport BA, et al. Anesthetic neurotoxicity–clinical implications of animal models. N Engl J Med. 2015;372(9):796–7.

    Article  CAS  PubMed  Google Scholar 

  37. Onalan G, et al. Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome. Fertil Steril. 2011;95(5):1788 e1–3.

    Article  Google Scholar 

  38. Practice Committee of American Society For Reproductive, M. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril. 2012;97(2):282–4.

    Google Scholar 

  39. Cabanes L, et al. Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2010;152(1):18–24.

    Article  PubMed  Google Scholar 

  40. Bodri D, et al. Poor outcome in oocyte donation after elective transfer of a single cleavage-stage embryo in Turner syndrome patients. Fertil Steril. 2009;91(4 Suppl):1489–92.

    Article  PubMed  Google Scholar 

  41. Chevalier N, et al. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab. 2011;96(2):E260–7.

    Article  CAS  PubMed  Google Scholar 

  42. Wasserman D, Asch A. Reproductive medicine and Turner syndrome: ethical issues. Fertil Steril. 2012;98(4):792–6.

    Article  PubMed  Google Scholar 

  43. Rodriguez SB, Campo-Engelstein L. Conceiving wholeness: women, motherhood, and ovarian transplantation, 1902 and 2004. Perspect Biol Med. 2011;54(3):409–16.

    Article  PubMed  Google Scholar 

  44. Johnson EK, Finlayson C. Preservation of fertility potential for sex diverse individuals. Transgend Health. 2016;1(1):41–4.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Gracia CR, et al. Ovarian tissue cryopreservation for fertility preservation in cancer patients: successful establishment and feasibility of a multidisciplinary collaboration. J Assist Reprod Genet. 2012;29(6):495–502.

    Article  PubMed  PubMed Central  Google Scholar 

  46. Ginsberg JP, et al. An experimental protocol for fertility preservation in prepubertal boys recently diagnosed with cancer: a report of acceptability and safety. Hum Reprod. 2010;25(1):37–41.

    Article  CAS  PubMed  Google Scholar 

  47. Campo-Engelstein L. Gametes or organs? How should we legally classify ovaries used for transplantation in the USA? J Med Ethics. 2011;37(3):166–70.

    Article  PubMed  Google Scholar 

  48. Johnson EK, Finlayson C. Preservation of fertility potential for gender and sex diverse individuals. Transgend Health. 2016;1(1):41–4.

    Article  PubMed  PubMed Central  Google Scholar 

  49. Informed consent, parental permission, and assent in pediatric practice. Committee on Bioethics, American Academy of Pediatrics. Pediatrics. 1995;95(2):314–7.

    Google Scholar 

  50. Loren AW, et al. Fertility preservation for patients with cancer: American Society of Clinical Oncology clinical practice guideline update. J Clin Oncol. 2013;31(19):2500–10.

    Article  PubMed  PubMed Central  Google Scholar 

  51. Luyckx V, et al. Evaluation of cryopreserved ovarian tissue from prepubertal patients after long-term xenografting and exogenous stimulation. Fertil Steril. 2013;100(5):1350–7.

    Article  CAS  PubMed  Google Scholar 

  52. McDougall R. The ethics of fertility preservation for paediatric cancer patients: from offer to rebuttable presumption. Bioethics. 2015;29(9):639–45.

    Article  PubMed  Google Scholar 

  53. Quinn GP, et al. Frozen hope: fertility preservation for women with cancer. J Midwifery Womens Health. 2010;55(2):175–80.

    Article  PubMed  Google Scholar 

  54. Basco D, Campo-Engelstein L, Rodriguez S. Insuring against infertility: expanding state infertility mandates to include fertility preservation technology for cancer patients. J Law Med Ethics. 2010;38(4):832–9.

    Article  PubMed  PubMed Central  Google Scholar 

  55. Campo-Engelstein L, et al. The ethics of fertility preservation for pediatric patients with differences (disorders) of sex development. J Endocr Soc. 2017;1(6):638–45.

    Article  PubMed  PubMed Central  Google Scholar 

  56. Abaci A, Catli G, Berberoglu M. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab. 2015;28(9–10):1019–27.

    CAS  PubMed  Google Scholar 

  57. Zelaya G, et al. Gonadoblastoma in patients with Ullrich-Turner syndrome. Pediatr Dev Pathol. 2015;18(2):117–21.

    Article  PubMed  Google Scholar 

  58. Albers P, et al. Guidelines on testicular cancer: 2015 update. Eur Urol. 2015;68(6):1054–68.

    Article  PubMed  Google Scholar 

  59. Sutton EJ, et al. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005;139A(2):57–66.

    Article  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. Division of Endocrinology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Courtney Finlayson & Reema Habiby

  2. Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Lia Bernardi

Authors
  1. Courtney Finlayson
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  2. Lia Bernardi
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  3. Reema Habiby
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Corresponding author

Correspondence to Courtney Finlayson .

Editor information

Editors and Affiliations

  1. Division of Endocrinology, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA

    Patricia Y. Fechner

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Finlayson, C., Bernardi, L., Habiby, R. (2020). Fertility Preservation for Turner Syndrome. In: Fechner, P. (eds) Turner Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-34150-3_4

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  • DOI: https://doi.org/10.1007/978-3-030-34150-3_4

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-34148-0

  • Online ISBN: 978-3-030-34150-3

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