Fertility Preservation for Turner Syndrome

  • Courtney FinlaysonEmail author
  • Lia Bernardi
  • Reema Habiby


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.


Fertility Ovarian function Pregnancy Anti-Müllerian hormone Premature ovarian insufficiency Ovarian failure Oocyte Fertility preservation Cryopreservation 


  1. 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.PubMedPubMedCentralGoogle Scholar
  2. 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.PubMedGoogle Scholar
  3. 3.
    Abir R, et al. Turner’s syndrome and fertility: current status and possible putative prospects. Hum Reprod Update. 2001;7(6):603–10.CrossRefGoogle Scholar
  4. 4.
    Hovatta O. Pregnancies in women with Turner’s syndrome. Ann Med. 1999;31(2):106–10.CrossRefGoogle Scholar
  5. 5.
    Grynberg M, et al. Fertility preservation in Turner syndrome. Fertil Steril. 2016;105(1):13–9.CrossRefGoogle Scholar
  6. 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.CrossRefGoogle Scholar
  7. 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.CrossRefGoogle Scholar
  8. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Singh RP, Carr DH. The anatomy and histology of XO human embryos and fetuses. Anat Rec. 1966;155(3):369–83.CrossRefGoogle Scholar
  10. 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.CrossRefGoogle Scholar
  11. 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.CrossRefGoogle Scholar
  12. 12.
    Broer SL, et al. Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications. Hum Reprod Update. 2014;20(5):688–701.CrossRefGoogle Scholar
  13. 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.CrossRefGoogle Scholar
  14. 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.CrossRefGoogle Scholar
  15. 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.CrossRefGoogle Scholar
  16. 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.CrossRefGoogle Scholar
  17. 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. 18.
    State, U.S.D.o., Annual report on intercountry adoption, U.S.D.o. State, Editor. 2015.Google Scholar
  19. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Bernard V, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016;31(4):782–8.CrossRefPubMedPubMedCentralGoogle Scholar
  21. 21.
    Birkebaek NH, et al. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet. 2002;61(1):35–9.CrossRefGoogle Scholar
  22. 22.
    Bryman I, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011;95(8):2507–10.CrossRefGoogle Scholar
  23. 23.
    Foudila T, Soderstrom-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999;14(2):532–5.CrossRefGoogle Scholar
  24. 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.CrossRefGoogle Scholar
  25. 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.CrossRefGoogle Scholar
  26. 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.CrossRefGoogle Scholar
  27. 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.CrossRefGoogle Scholar
  28. 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.CrossRefGoogle Scholar
  29. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  30. 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.CrossRefGoogle Scholar
  31. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  32. 32.
    Demeestere I, et al. Live birth after autograft of ovarian tissue cryopreserved during childhood. Hum Reprod. 2015;30(9):2107–9.CrossRefGoogle Scholar
  33. 33.
    Donnelly L. Woman gives birth to baby using ovary frozen in her childhood in ‘world first’, in The Telegraph. 2016.Google Scholar
  34. 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.PubMedGoogle Scholar
  35. 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.PubMedGoogle Scholar
  36. 36.
    Rappaport BA, et al. Anesthetic neurotoxicity–clinical implications of animal models. N Engl J Med. 2015;372(9):796–7.CrossRefGoogle Scholar
  37. 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.CrossRefGoogle Scholar
  38. 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. 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.CrossRefGoogle Scholar
  40. 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.CrossRefGoogle Scholar
  41. 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.CrossRefGoogle Scholar
  42. 42.
    Wasserman D, Asch A. Reproductive medicine and Turner syndrome: ethical issues. Fertil Steril. 2012;98(4):792–6.CrossRefGoogle Scholar
  43. 43.
    Rodriguez SB, Campo-Engelstein L. Conceiving wholeness: women, motherhood, and ovarian transplantation, 1902 and 2004. Perspect Biol Med. 2011;54(3):409–16.CrossRefGoogle Scholar
  44. 44.
    Johnson EK, Finlayson C. Preservation of fertility potential for sex diverse individuals. Transgend Health. 2016;1(1):41–4.CrossRefPubMedPubMedCentralGoogle Scholar
  45. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  46. 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.CrossRefGoogle Scholar
  47. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  48. 48.
    Johnson EK, Finlayson C. Preservation of fertility potential for gender and sex diverse individuals. Transgend Health. 2016;1(1):41–4.CrossRefPubMedPubMedCentralGoogle Scholar
  49. 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. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  51. 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.CrossRefGoogle Scholar
  52. 52.
    McDougall R. The ethics of fertility preservation for paediatric cancer patients: from offer to rebuttable presumption. Bioethics. 2015;29(9):639–45.CrossRefGoogle Scholar
  53. 53.
    Quinn GP, et al. Frozen hope: fertility preservation for women with cancer. J Midwifery Womens Health. 2010;55(2):175–80.CrossRefGoogle Scholar
  54. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  55. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  56. 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.PubMedGoogle Scholar
  57. 57.
    Zelaya G, et al. Gonadoblastoma in patients with Ullrich-Turner syndrome. Pediatr Dev Pathol. 2015;18(2):117–21.CrossRefGoogle Scholar
  58. 58.
    Albers P, et al. Guidelines on testicular cancer: 2015 update. Eur Urol. 2015;68(6):1054–68.CrossRefGoogle Scholar
  59. 59.
    Sutton EJ, et al. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005;139A(2):57–66.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Courtney Finlayson
    • 1
    Email author
  • Lia Bernardi
    • 2
  • Reema Habiby
    • 1
  1. 1.Division of Endocrinology, Department of PediatricsAnn & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of MedicineChicagoUSA
  2. 2.Division of Reproductive Endocrinology, Department of Obstetrics and GynecologyNorthwestern University Feinberg School of MedicineChicagoUSA

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