Skip to main content
SpringerLink
Log in

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes

  • Fertility Preservation
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Characterize outcomes among adolescents and young adults (AYAs) with sex chromosome disorders (SCDs) after oocyte cryopreservation (OC) consultation.

Methods

Retrospective case series of all AYA (< 25 years) patients with SCDs seen for OC consultation from 2011 to 2019 at a large, urban, academic fertility center. All AYA patients with an SCD seen for OC consult in the study time period were reviewed and included. Data collected included patient age, SCD type, number of patients who attempted OC, number of cycles attempted, and cycle outcomes.

Results

Twenty-two patients were included: 9 with Turner syndrome, 12 with mosaic Turner syndrome, and 1 with 47,XXX. Mean age at consult was 14.7 ± 3.5 years. Fourteen patients elected for OC: 5 with Turner syndrome, 8 with mosaic Turner syndrome, and 1 47,XXX who pursued 31 OC cycles total. Of those 14 patients, 10 underwent retrieval, 9 froze oocytes, and 8 froze mature (MII) oocytes. Seven patients underwent > 1 cycle and 7 had ≥ 1 cancelation. 3/3 patients who pursued cycles after 1st cancelation never got to retrieval. Age, SCD type, and baseline FSH did not predict ability to freeze MIIs. One patient returned after OC and attempted 4 ovulation induction cycles and 2 IVF cycles; all were canceled for low response.

Conclusions

AYA patients with SCDs have a high risk of poor response and cycle cancelation but the majority froze MIIs. Thus, setting expectations is important. A larger sample size is needed to evaluate possible clinical predictors of success.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Jeon KC, Chen LS, Goodson P. Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature. Genet Med. 2012;14(1):27–38.

    Article  Google Scholar 

  2. Berglund A, Stochholm K, Gravholt CH. The epidemiology of sex chromosome abnormalities. Am J Med Genet C. 2020;184(2):202–15.

    Article  Google Scholar 

  3. Sybert VP, McCauley E. Turner’s syndrome. New Engl J Med. 2004;351(12):1227–38.

    Article  CAS  Google Scholar 

  4. Reynaud K, Cortvrindt R, Verlinde F, De Schepper J, Bourgain C, Smitz J. Number of ovarian follicles in human fetuses with the 45 X karyotype. Fertil Steril. 2004;81(4):1112–9.

    Article  Google Scholar 

  5. Ye M, Yeh J, Kosteria I, Li L. Progress in fertility preservation strategies in Turner syndrome. Front Med. 2020;7(3).

  6. Dabrowski E, Jensen R, Johnson EK, Habiby RL, Brickman WJ, Finlayson C. Turner syndrome systematic review: spontaneous thelarche and menarche stratified by karyotype. Horm Res Paediat. 2019;92(3):143–9.

    Article  CAS  Google Scholar 

  7. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. J Clin Endocr Metab. 1997;82(6):1810–3.

    CAS  PubMed  Google Scholar 

  8. Grynberg M, Bidet M, Benard J, Poulain M, Sonigo C, Cédrin-Durnerin I, et al. Fertility preservation in Turner syndrome. Fertil Steril. 2016;105(1):13–9.

    Article  Google Scholar 

  9. Lunding SA, Aksglaede L, Anderson RA, Main KM, Juul A, Hagen CP, et al. AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner syndrome patients. J Clin Endocr Metab. 2015;100(7):1030–8.

    Article  Google Scholar 

  10. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47, XXX). Orphanet J Rare Dis. 2010;5(1):1–9.

    Article  Google Scholar 

  11. Oktay K, Bedoschi G, Berkowitz K, Bronson R, Kashani B, McGovern P, et al. Fertility preservation in women with Turner syndrome: a comprehensive review and practical guidelines. J Pediatr Adol Gynec. 2016;29(5):409–16.

    Article  Google Scholar 

  12. Huang JYJ, Tulandi T, Holzer H, Lau NM, Macdonald S, Tan SL, 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  Google Scholar 

  13. Mamsen LS, Charkiewicz K, Anderson RA, Telfer EE, McLaughlin M, Kelsey TW, et al. Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation. Fertil Steril. 2019;111(6):1217–25.

    Article  Google Scholar 

  14. Hreinsson JG, Otala M, Fridström M, Borgström B, Rasmussen C, Lundqvist M, et al. Follicles are found in the ovaries of adolescent girls with Turner’s syndrome. J Clin Endocr Metab. 2002;87(8):3618–23.

    CAS  PubMed  Google Scholar 

  15. Balen AH, Harris SE, Chambers EL, Picton HM. Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome. Brit J Obstet Gynaec. 2010;117(2):238–42.

    Article  CAS  Google Scholar 

  16. Lau NM, Huang JYJ, MacDonald S, Elizur S, Gidoni Y, Holzer H, et al. Feasibility of fertility preservation in young females with Turner syndrome. Reprod Biomed Online. 2009;18(2):290–5.

    Article  Google Scholar 

  17. 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.

    Article  Google Scholar 

  18. El-Shawarby SA, Sharif F, Conway G, Serhal P, Davies M. Oocyte cryopreservation after controlled ovarian hyperstimulation in mosaic Turner syndrome: another fertility preservation option in a dedicated UK clinic. Br J Obstet Gynaec. 2010;117(2):234–7.

    Article  CAS  Google Scholar 

  19. Kavoussi SK, Fisseha S, Smith YR, Smith GD, Christman GM, Gago LA. Oocyte cryopreservation in a woman with mosaic Turner syndrome: a case report. J Reprod Med. 2008;53(3):223–6.

    PubMed  Google Scholar 

  20. 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 Adol Gynec. 2014;27(6):342–6.

    Article  CAS  Google Scholar 

  21. Talaulikar VS, Conway GS, Pimblett A, Davies MC. Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome. Fertil Steril. 2019;111(3):505–9.

    Article  CAS  Google Scholar 

  22. Solé M, Santaló J, Boada M, Clúa E, Rodríguez I, Martínez F, et al. How does vitrification affect oocyte viability in oocyte donation cycles? A prospective study to compare outcomes achieved with fresh versus vitrified sibling oocytes. Hum Reprod. 2013;28(8):2087–92.

    Article  Google Scholar 

  23. Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perrière A, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016;31(4):782–8.

    Article  Google Scholar 

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

    Article  CAS  Google Scholar 

  25. Birgit B, Julius H, Carsten R, Maryam S, Gabriel F, Victoria K, et al. Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocr Metab. 2009;94(1):74–80.

    Article  CAS  Google Scholar 

  26. Goldman KN, Noyes NL, Knopman JM, McCaffrey C, Grifo JA. Oocyte efficiency: does live birth rate differ when analyzing cryopreserved and fresh oocytes on a per-oocyte basis? Fertil Steril. 2013;100(3):712–7.

    Article  Google Scholar 

  27. Vergier J, Bottin P, Saias J, Reynaud R, Guillemain C, Courbiere B. Fertility preservation in Turner syndrome: karyotype does not predict ovarian response to stimulation. Clin Endocrinol. 2019;91(5):646–51.

    Article  CAS  Google Scholar 

  28. Oktay K, Bedoschi G. Fertility preservation in girls with Turner syndrome: limitations, current success and future prospects. Fertil Steril. 2019;111(6):1124–6.

    Article  Google Scholar 

  29. Azem F, Brener A, Malinger G, Reches A, Many A, Yogev Y, et al. Bypassing physiological puberty, a novel procedure of oocyte cryopreservation at age 7: a case report and review of the literature. Fertil Steril. 2020;114(2):374–8.

    Article  CAS  Google Scholar 

  30. Mortensen KH, Rohde MD, Uldbjerg N, Gravholt CH. Repeated spontaneous pregnancies in 45, X Turner syndrome. Obstet Gynecol. 2010;115(2):446–9.

    Article  Google Scholar 

  31. Hook EB, Warburton D. 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. Hum Genet. 2014;133(4):417–24.

    Article  CAS  Google Scholar 

  32. Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, Hanson C, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011;95(8):2507–10.

    Article  Google Scholar 

  33. Hagen CP, Main KM, Kjaergaard S, Juul A. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty. Hum Reprod. 2010;25(12):3134–41.

    Article  CAS  Google Scholar 

  34. Hagen CP, Aksglaede L, Sørensen K, Main KM, Boas M, Cleemann L, et al. Serum levels of anti-Mullerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J Clin Endocr Metab. 2010;95(11):5003–10.

    Article  CAS  Google Scholar 

  35. Karnis MF. Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years. Fertil Steril. 2012;98(4):787–91.

    Article  Google Scholar 

  36. Silberbach M, Roos-Hesselink JW, Andersen NH, Braverman AC, Brown N, Collins RT, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circulation: Genomic Precis Med. 2018;11(10).

  37. Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril. 2005;83(4):1074–5.

    Article  Google Scholar 

  38. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3).

  39. Tarani L, Lampariello S, Raguso G, Colloridi F, Pucarelli I, Pasquino AM, et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecol Endocrinol. 1998;12(2):83–7.

    Article  CAS  Google Scholar 

  40. Doğer E, Çakıroğlu Y, Ceylan Y, Ulak E, Özdamar Ö, Çalışkan E. Reproductive and obstetric outcomes in mosaic Turner’s syndrome: a cross-sectional study and review of the literature. Reprod Biol Endocrin. 2015;13(1):1–7.

    Article  Google Scholar 

  41. Borini A, Coticchio G. Oocyte quantity and quality are crucial for a perspective of fertility preservation in women with Turner syndrome. Fertil Steril. 2019;111(3):461–2.

    Article  Google Scholar 

Download references

Acknowledgements

The authors would like to thank all of the patients who were included in this study.

Author information

Authors and Affiliations

  1. New York University Grossman School of Medicine, 550 First Avenue, New York, NY, 10016, USA

    Rachel A. Martel

  2. New York University Langone Prelude Fertility Center, 660 First Avenue, New York, NY, 10016, USA

    Jennifer K. Blakemore & M. Elizabeth Fino

Authors
  1. Rachel A. Martel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jennifer K. Blakemore
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Elizabeth Fino
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Rachel A. Martel.

Ethics declarations

The authors declare no competing interests.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Martel, R.A., Blakemore, J.K. & Fino, M.E. The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. J Assist Reprod Genet 39, 1143–1153 (2022). https://doi.org/10.1007/s10815-022-02469-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-022-02469-1

Keywords

Search

Navigation