Reproductive outcomes of women with Turner syndrome undergoing oocyte vitrification: a retrospective multicenter cohort study
Open accessAbstract
Background: Turner syndrome (TS) is accompanied with premature ovarian insufficiency. Oocyte vitrification is an established method to preserve fertility. However, data on the oocyte yield in women with TS who vitrify their oocytes and the return rate to utilize the oocytes are scarce. Methods: Retrospective multicenter cohort study. Data was collected from medical records of women with TS who started oocyte vitrification between 2010 and 2021. Results: Thirty-three women were included. The median cumulative number of vitrified oocytes was 20 per woman. Complications occurred in 4% of the cycles. Significant correlations were found between the cumulative number of vitrified oocytes and AMH (r = 0.54 and p < 0.01), AFC (r = 0.49 and p < 0.01), percentage of 46,XX cells (r = 0.49 and p < 0.01), and FSH (r = −0.65 and p < 0.01). Spontaneous (n = 8) and IVF (n = 2) pregnancies occurred in 10 women ± three years after vitrification. So far, none of the women have returned to utilize their vitrified oocytes. Conclusions: Oocyte vitrification is a feasible fertility preservation option for women with TS, particularly in those with 46,XX cell lines or sufficient ovarian reserve. Multiple stimulation cycles are recommended to reach an adequate number of vitrified oocytes for pregnancy. It is too early to draw conclusions about the utilization of vitrified oocytes in women with TS.
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Accurate characterization of even low-level chromosomal mosaicism by assessing two cell lines (lymphocytes and buccal cells) may help to more precisely estimate fertility potential.
“Accurate characterization of even low-level chromosomal mosaicism by assessing two cell lines (lymphocytes and buccal cells) may help to more precisely estimate fertility potential.573-578”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
Findings associated with an increased likelihood of identifying follicles in the ovarian cortex include mosaic karyotype with a 46,XX cell line, spontaneous puberty, measurable AMH, or FSH <10 IU/L.
“Findings that may be associated with an increased likelihood of identifying follicles in the ovarian cortex include (1) mosaic karyotype with a 46,XX cell line, (2) spontaneous puberty, (3) measurable AMH or (4) FSH <10 IU L−1.263,578,579”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
The optimal number of oocytes required for a successful live birth in TS is still unknown.
“Therefore, care should be taken in counselling individuals with TS and their families as the optimal number of oocytes required for a successful live birth is still unknown.578”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
In the largest retrospective study to date, Nadesapillai et al. reported that the percentage of 46,XX cells, FSH, AMH, and antral follicle count had a significant correlation with the cumulative number of vitrified oocytes.
“In one retrospective study Martel at al. found that age, karyotype and FSH had no correlation with the number of vitrified oocytes,599 while in the largest retrospective study to date Nadesapillai et al. reported that the percentage of 46, XX cells, FSH, AMH and antral follicle count had a significant correlation with the cumulative number of vitrified oocytes.578”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
Published data regarding oocyte cryopreservation in individuals with TS entails six retrospective studies and eight case reports comprising a total of 80 individuals ranging in age from 7 to 30 years.
“To date, published data regarding oocyte cryopreservation in individuals with TS entails six retrospective studies and eight case reports comprising a total of 80 individuals ranging in age from 7 to 30 years.578,591,596-607”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
There are no data on the psychological impact of oocyte vitrification in prepubertal girls.
“Because there are no data on the psychological impact of oocyte vitrification in prepubertal girls, mental well-being of this vulnerable group deserves special attention and responsibility from healthcare providers during counseling.578”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
The utility of oocyte cryopreservation in individuals with TS who have underlying ovarian insufficiency is unknown.
“However, the utility of oocyte cryopreservation in individuals with TS who have underlying ovarian insufficiency is unknown.578,593-595”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [578]
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- Authors
- Nadesapillai, S., Mol, F., Broer, S. L., Stevens Brentjens, L. B. P. M., Verhoeven, M. O., Heida, K. Y., Goddijn, M., van Golde, R. J. T., Bos, A. M. E., van der Coelen, S., Peek, R., Braat, D. D. M., van der Velden, J. A. E. M., & Fleischer, K.
- Affiliations
- Radboud University Medical Center (NL)
- Amsterdam University Medical Centers (NL)
- University Medical Center Utrecht (NL)
- Department of Obstetrics and Gynecology, Maastricht University Medical Center+, 6229 HX Maastricht, The Netherlands
- Dijklander Ziekenhuis (NL)
- Department of Obstetrics and Gynecology, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
- Department of Pediatrics, Amalia’s Children’s Hospital, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
- Department of Reproductive Medicine, Nij Geertgen Center for Fertility, 5424 SM Elsendorp, The Netherlands
- Corresponding author
- Nadesapillai, Sapthami
- ORCID
- Venue
- Journal of Clinical Medicine
- Publisher
- MDPI AG
- Published
- 2023-10-13
- Volume
- 12
- Issue
- 20
- Pages
- 6502
- ISSN
- 2077-0383 (ISSN-L)
- PMC
- PMC10607490
- OpenAlex
- W4387614472
- Cited by
- 13
- References
- 34
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 3
- FWCI
- 3.32
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Journal of Clinical Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion, cc-by)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion, cc-by)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- Turner syndrome, oocyte vitrification, fertility preservation, premature ovarian insufficiency, oocyte yield, ovarian reserve, anti-Müllerian hormone, antral follicle count, follicle-stimulating hormone, IVF pregnancy, spontaneous conception
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