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Published online: 2025-03-03

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Major opinion about motherhood among women with Turner syndrome

Malgorzata Wiecek1, Wiktoria Kempinska2, Aneta Gawlik-Starzyk1

Abstract

Objectives: Turner syndrome (TS) is associated with ovarian dysgenesis leading to infertility in most of the cases. There are some options for fertility preservation (FP) in patients with sufficient follicle numbers. The most recently studied are oocyte and ovarian tissue preservation. Due to premature ovarian failure among TS girls, the procedure should be performed as early as possible.

The aim of this study is to gain the opinions of women with TS about motherhood based on the web-survey.

Material and methods: The survey, hosted on SurveyMonkey.com, targeted women over 18 years with TS. It comprised 16 single-choice questions, ensuring anonymity and consent for data usage.

Results: The answers of a total of 152 women were analyzed. When asked if they had discussed motherhood options with their physicians, 72/152 of the participants responded negatively. Asked about the desire of maternity, 85/152 expressed a desire to have children. 5/152 had biological children from spontaneous pregnancies, 5/152 had biological children through oocyte donation, 1/152 through embryo donation, and 12/152 had adopted children.
75/150 respondents answered yes to the question of whether they desired to use ovarian tissues if they had been preserved during adolescence.

Conclusions: The findings suggest that a significant number of women with TS who aspire to become mothers would be inclined to use preserved cells if this option were available. This underscores the necessity for further exploration of FP techniques for individuals with TS.

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References

  1. Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006; 91(10): 3897–3902.
  2. Ferguson-Smith MA. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet. 1965; 2(2): 142–155.
  3. Gravholt CH, Anderson NH, Christin-Maitre S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024; 190(6): G53–G151.
  4. Modi DN, Sane S, Bhartiya D. Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads. Mol Hum Reprod. 2003; 9(4): 219–225.
  5. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010; 95(4): 1487–1495.
  6. Hankus M, Soltysik K, Szeliga K, et al. Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study. Horm Res Paediatr. 2018; 89(2): 90–97.
  7. Borgström B, Hreinsson J, Rasmussen C, 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.
  8. Hagen CP, Aksglaede L, Sørensen K, et al. Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J Clin Endocrinol Metab. 2010; 95(11): 5003–5010.
  9. Bernard V, Donadille B, Zenaty D, et al. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016; 31(4): 782–788.
  10. Bryman I, Sylvén L, Berntorp K, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011; 95(8): 2507–2510.
  11. Calanchini M, Aye CYL, Orchard E, et al. Fertility issues and pregnancy outcomes in Turner syndrome. Fertil Steril. 2020; 114(1): 144–154.
  12. Więcek M, Gawlik J, Nowak Z, et al. Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature. Endocr Connect. 2022; 11(12).
  13. Sutton EJ, McInerney-Leo A, Bondy CA, et al. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005; 139A(2): 57–66.
  14. Ye M, Yeh J, Kosteria I, et al. Progress in Fertility Preservation Strategies in Turner Syndrome. Front Med (Lausanne). 2020; 7: 3.
  15. Iussig B, Maggiulli R, Fabozzi G, et al. A brief history of oocyte cryopreservation: Arguments and facts. Acta Obstet Gynecol Scand. 2019; 98(5): 550–558.
  16. 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): 342–346.
  17. Oktay K, Bedoschi G. Fertility preservation in girls with Turner syndrome: limitations, current success and future prospects. Fertil Steril. 2019; 111(6): 1124–1126.
  18. Poirot C, Brugieres L, Yakouben K, et al. Ovarian tissue cryopreservation for fertility preservation in 418 girls and adolescents up to 15 years of age facing highly gonadotoxic treatment. Twenty years of experience at a single center. Acta Obstet Gynecol Scand. 2019; 98(5): 630–637.
  19. Jeve YB, Gelbaya T, Fatum M. Time to consider ovarian tissue cryopreservation for girls with Turner's syndrome: an opinion paper. Hum Reprod Open. 2019; 2019(3): hoz016.
  20. Gayete-Lafuente S, Turan V, Oktay KH. Oocyte cryopreservation with in vitro maturation for fertility preservation in girls at risk for ovarian insufficiency. J Assist Reprod Genet. 2023; 40(12): 2777–2785.
  21. Brouillet S, Ranisavljevic N, Sonigo C, et al. Should we perform oocyte accumulation to preserve fertility in women with Turner syndrome? A multicenter study and systematic review of the literature. Hum Reprod. 2023; 38(9): 1733–1745.
  22. Nadesapillai S, van der Velden J, van der Coelen S, et al. TurnerFertility trial: fertility preservation in young girls with Turner syndrome by freezing ovarian cortex tissue-a prospective intervention study. Fertil Steril. 2023; 120(5): 1048–1060.
  23. Rodriguez-Wallberg KA, Sergouniotis F, Nilsson HP, et al. Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: A prospective cohort study. Front Endocrinol (Lausanne). 2023; 14: 1135249.
  24. Oktay K, Bedoschi G, Berkowitz K, et al. Fertility preservation in women with Turner syndrome: a comprehensive review and practical guidelines. J Pediatr Adolesc Gynecol. 2016; 29(5): 409–416.
  25. Schleedoorn MJ, Mulder BH, Braat DDM, et al. International consensus: ovarian tissue cryopreservation in young Turner syndrome patients: outcomes of an ethical Delphi study including 55 experts from 16 different countries. Hum Reprod. 2020; 35(5): 1061–1072.
  26. van der Coelen S, van der Velden J, Nadesapillai S, et al. The Decision-Making Process regarding Ovarian Tissue Cryopreservation in Girls with Turner Syndrome by Patients, Parents, and Healthcare Providers: A Mixed-Methods Study. Horm Res Paediatr. 2022; 95(4): 374–383.
  27. Morgan TL, Kapa HM, Crerand CE, et al. Fertility counseling and preservation discussions for females with Turner syndrome in pediatric centers: practice patterns and predictors. Fertil Steril. 2019; 112(4): 740–748.
  28. Theroux CI, Elliott V, Davis S, et al. Fertility Counseling Practices for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey. Horm Res Paediatr. 2022; 95(4): 321–330.
  29. Donadille B, Bernard V, Christin-Maitre S. How can we make pregnancy safe for women with Turner syndrome? Am J Med Genet C Semin Med Genet. 2019; 181(1): 100–107.
  30. Bouet PE, Godbout A, El Hachem H, et al. Fertility and Pregnancy in Turner Syndrome. J Obstet Gynaecol Can. 2016; 38(8): 712–718.
  31. Hagman A, Loft A, Wennerholm UB, et al. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study. Hum Reprod. 2013; 28(6): 1598–1609.
  32. Cauldwell M, Steer PJ, Adamson D, et al. Pregnancies in women with Turner syndrome: a retrospective multicentre UK study. BJOG. 2022; 129(5): 796–803.
  33. Grewal J, Valente AM, Egbe AC, et al. Cardiovascular outcomes of pregnancy in Turner syndrome. Heart. 2021; 107(1): 61–66.
  34. Cabanes L, Chalas C, Christin-Maitre S, 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.
  35. Falsey E, Cirino AL, Snyder E, et al. Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy. J Community Genet. 2022; 13(3): 263–270.