Skip to main content
SpringerLink
Log in

Turner Syndrome

  • Chapter
  • First Online:
Fertility Preservation in Oncological and Non-Oncological Diseases

Abstract

Turner syndrome (TS) summarises a heterogeneous group of patients with different chromosomal pathologies, including 45,X0 monosomy, mosaicism and structural abnormalities of the X chromosome. Monosomies usually lead to very early premature ovarian insufficiency, whereas mosaicism and structural abnormalities may preserve fertility. The genotype should therefore be taken into account in the indication for and implementation of a fertility preservation measure. The increased pregnancy risks in Turner syndrome must also be considered. Fertility preservation measures include freezing of oocytes and possibly ovarian tissue.

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

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Zheng J, Liu Z, Xia P, Lai Y, Wei Y, Liu Y, Chen J, Qin L, Xie L, Wang H. Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:61–4.

    PubMed  Google Scholar 

  2. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.

    PubMed  CAS  Google Scholar 

  3. Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, Skuse D. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet. 1997;61:471–83.

    PubMed  CAS  Google Scholar 

  4. Miguel-Neto J, Carvalho AB, Marques-de-Faria AP, Guerra-Júnior G, Maciel-Guerra AT. New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome. J Pediatr Endocrinol Metab. 2016;29:475–9.

    PubMed  Google Scholar 

  5. Noordman I, Duijnhouwer A, Kapusta L, Kempers M, Roeleveld N, Schokking M, Smeets D, Freriks K, Timmers H, van Alfen-van der Velden J. Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. Eur J Med Genet. 2018;61:301–6.

    Google Scholar 

  6. Yang S. Diagnostic and therapeutic considerations in Turner syndrome. Ann Pediatr Endocrinol Metab. 2017;22:226–30.

    PubMed  PubMed Central  Google Scholar 

  7. Balen AH, Harris SE, Chambers EL, Picton HM. Conservation of fertility and oocyte genetics in a young woman with mosaic Turner syndrome. BJOG. 2010;117:238–42.

    PubMed  CAS  Google Scholar 

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

    PubMed  Google Scholar 

  9. Peek R, Schleedoorn M, Smeets D, van de Zande G, Groenman F, Braat D, van der Velden J, Fleischer K. Ovarian follicles of young patients with Turner’s syndrome contain normal oocytes but monosomic 45,X granulosa cells. Hum Reprod. 2019;34:1686–96.

    PubMed  PubMed Central  Google Scholar 

  10. 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;133:417–24.

    PubMed  CAS  Google Scholar 

  11. Álvarez-Nava F, Lanes R. Epigenetics in Turner syndrome. Clin Epigenetics. 2018;10:45.

    PubMed  PubMed Central  Google Scholar 

  12. Karnis MF, Zimon AE, Lalwani SI, Timmreck LS, Klipstein S, Reindollar RH. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril. 2003;80:498–501.

    PubMed  Google Scholar 

  13. Bodri D, Vernaeve V, Figueras F, Vidal R, Guillén JJ, Coll O. Oocyte donation in patients with Turner’s syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Hum Reprod. 2006;21:829–32.

    PubMed  CAS  Google Scholar 

  14. Practice Committee of American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril. 2012;97:282–4.

    Google Scholar 

  15. Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril. 2011;95:2251–6.

    PubMed  PubMed Central  Google Scholar 

  16. Chevalier N, Letur H, Lelannou D, Ohl J, Cornet D, Chalas-Boissonnas C, Frydman R, Catteau-Jonard S, Greck-Chassain T, Papaxanthos-Roche A, Dulucq MC, Couet ML, Cédrin-Durnerin I, Pouly JL, Fénichel P, French Study Group for Oocyte Donation. 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:E260–7.

    PubMed  CAS  Google Scholar 

  17. Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, Hanson C, Oxholm M, Landin-Wilhelmsen K. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011;95:2507–10.

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  19. Carlson M, Silberbach M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet. 2007;44:745–9.

    PubMed  PubMed Central  CAS  Google Scholar 

  20. Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663–70.

    PubMed  Google Scholar 

  21. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, Hjerrild BE, Ledet T, Djurhuus CB, Sylvén L, Baandrup U, Kristensen BØ, Christiansen JS. Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young. 2006;16:430–6.

    PubMed  Google Scholar 

  22. Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92:10–25.

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  24. Foudila T, Söderström-Anttila V, Hovatta O. Turner’s syndrome and pregnancies after oocyte donation. Hum Reprod. 1999;14:532–5.

    PubMed  CAS  Google Scholar 

  25. Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet. 2002;61:35–9.

    PubMed  CAS  Google Scholar 

  26. Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben RZ. Turner’s syndrome and fertility: current status and possible putative prospects. Hum Reprod Update. 2001;7:603–10.

    PubMed  CAS  Google Scholar 

  27. Hreinsson JG, Otala M, Fridström M, Borgström B, Rasmussen C, Lundqvist M, Tuuri T, Simberg N, Mikkola M, Dunkel L, Hovatta O. Follicles are found in the ovaries of adolescent girls with Turner’s syndrome. J Clin Endocrinol Metab. 2002;87:3618–23.

    PubMed  CAS  Google Scholar 

  28. Yaron Y, Ochshorn Y, Amit A, Yovel I, Kogosowki A, Lessing JB. Patients with Turner’s syndrome may have an inherent endometrial abnormality affecting receptivity in oocyte donation. Fertil Steril. 1996;65:1249–52.

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  30. Rogers PA, Murphy CR, Leeton J, Hoise MJ, Beaton L. Turner’s syndrome patients lack tight junctions between uterine epithelial cells. Hum Reprod. 1992;7:883–5.

    PubMed  CAS  Google Scholar 

  31. Cohen MA, Sauer MV, Lindheim SR. 21-Hydroxylase deficiency and Turner’s syndrome: a reason for diminished endometrial receptivity. Fertil Steril. 1999;72:937–9.

    PubMed  CAS  Google Scholar 

  32. Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet. 2005;139:57–66.

    Google Scholar 

  33. Mazzanti L, Cacciari E, Bergamaschi R, Tassinari D, Magnani C, Perri A, Scarano E, Pluchinotta V. Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes. J Pediatr. 1997;131(1 Pt 1):135–40.

    PubMed  CAS  Google Scholar 

  34. Baudier MM, Chihal HJ, Dickey RP. Pregnancy and reproductive function in a patient with non-mosaic Turner syndrome. Obstet Gynecol. 1985;65(3 Suppl):60S–4S.

    PubMed  CAS  Google Scholar 

  35. Lunding SA, Aksglaede L, Anderson RA, Main KM, Juul A, Hagen CP, Pedersen AT. AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner syndrome patients. J Clin Endocrinol Metab. 2015;100:E1030–8.

    PubMed  CAS  Google Scholar 

  36. Borgström B, Hreinsson J, Rasmussen C, Sheikhi M, Fried G, Keros V, Fridström M, Hovatta O. Fertility preservation in girls with Turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocrinol Metab. 2009;94:74–80.

    PubMed  Google Scholar 

  37. 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;27:342–6.

    PubMed  PubMed Central  CAS  Google Scholar 

  38. Oktay K, Bedoschi G, Berkowitz K, Bronson R, Kashani B, McGovern P, Pal L, Quinn G, Rubin K. Fertility preservation in women with Turner syndrome: a comprehensive review and practical guidelines. J Pediatr Adolesc Gynecol. 2016;29:409–16.

    PubMed  Google Scholar 

  39. 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 (Oxf). 2019;91:646–51.

    CAS  Google Scholar 

  40. Schleedorn MJ, van der Velden AAEM, Braat DDM, Peek R, Fleischer K. To freeze or not to freeze? An update on fertility preservation in females with Turner syndrome. Pediatr Endocrinol Rev. 2019:369–82.

    Google Scholar 

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

    PubMed  CAS  Google Scholar 

  42. Cobo A, García-Velasco JA, Coello A, Domingo J, Pellicer A, Remohí J. Oocyte vitrification as an efficient option for elective fertility preservation. Fertil Steril. 2016;105:755–64.e8.

    PubMed  Google Scholar 

  43. Mamsen LS, Charkiewicz K, Anderson RA, Telfer EE, McLaughlin M, Kelsey TW, Kristensen SG, Gook DA, Ernst E, Andersen CY. Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation. Fertil Steril. 2019;111:1217–25.e3.

    PubMed  Google Scholar 

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

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. MVZ KITZ Fertility Centre, Regensburg, Germany

    Andreas Schüring

  2. Specialist Centre for Reproductive Medicine, Prenatal Medicine, Endocrinology and Osteology, amedes MVZ Hamburg, Hamburg, Germany

    Frank Nawroth

  3. Division of Gynaecological Endocrinology and Reproductive Medicine, University Women’s Hospital, University of Bern, Bern, Switzerland

    Michael von Wolff

Authors
  1. Andreas Schüring
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Frank Nawroth
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Michael von Wolff
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Frank Nawroth .

Editor information

Editors and Affiliations

  1. Division of Gynaecological Endocrinology and Reproductive Medicine, University Women’s Hospital of Bern, Bern, Switzerland

    Michael von Wolff

  2. Specialist Centre for Reproductive Medicine, Prenatal Medicine, Endocrinology and Osteology, amedes MVZ Hamburg, Hamburg, Germany

    Frank Nawroth

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Schüring, A., Nawroth, F., von Wolff, M. (2020). Turner Syndrome. In: von Wolff, M., Nawroth, F. (eds) Fertility Preservation in Oncological and Non-Oncological Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-47568-0_17

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-47568-0_17

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-47567-3

  • Online ISBN: 978-3-030-47568-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation