First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome
Open accessAbstract
Purpose To report the case of a young woman diagnosed with Turner syndrome (TS) who achieved a live birth using her own oocytes that had been vitrified for fertility preservation.Methods A 25-year-old woman with mosaic (45,X/46,XX) TS was referred for fertility preservation (FP) counseling. Serum anti-Müllerian hormone (AMH) level was normal (6.4 µg/L). In view of the unpredictable rate of follicle loss in TS individuals, she requested FP and underwent two cycles of ovarian stimulation (OS) for oocyte cryopreservation (OoC) using a GnRH antagonist protocol and recombinant follicle stimulating hormone (rFSH), 200-250 IU daily for 8 resp. 12 days.Results In total, 29 metaphase II oocytes (MII) were vitrified after OS. After conceiving spontaneously and achieving a live birth, she returned to the clinic five years after OoC with a desire for pregnancy using in vitro fertilization (IVF) of her cryopreserved oocytes and preimplantation genetic testing (PGT-A). All 29 MII oocytes were thawed; 23 oocytes survived (79.3%) and were inseminated with partner sperm using intracytoplasmic sperm injection (ICSI). Thirteen oocytes were fertilized resulting in three good quality blastocysts which were vitrified after trophectoderm biopsy for PGT-A using array-CGH. Two blastocysts were found to be euploid. One was thawed and transferred to the uterus using a HRT priming protocol. An uneventful pregnancy occurred. The patient delivered a healthy baby girl weighing 3490 g at 40 weeks of gestation.Conclusions We report the first live birth achieved using cryopreserved oocytes in a woman diagnosed with mosaic TS. Cryopreservation of oocytes after ovarian stimulation is a realistic option for FP in selected post menarche individuals with mosaic TS. Whether PGT-A may reduce the risk of pregnancy loss in TS has to be confirmed by further studies.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [591]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
Elective and Onco-fertility preservation: factors related to IVF outcomes
Cobo, A., García-Velasco, J. A., Domingo, J., Pellicer, A., & Remohi, J. A. (2018) · Human Reproduction · doi:10.1093/humrep/dey321 · Cited by 366 · see citing works
Turner syndrome: mechanisms and management
Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356 · see citing works
Turner syndrome: a cytogenetic and molecular study
Jacobs, P. A., DALTON, P., James, R. S., MOSSE, K., POWER, M. M., Robinson, D., & Skuse, D. (1997) · Annals of Human Genetics · doi:10.1017/s0003480097006507 · Cited by 328 · see citing works
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association
Silberbach, M., Roos‐Hesselink, J. W., Andersen, N. H., Braverman, A. C., Brown, N. M., Collins, R. T., Backer, J. F. A. D., Eagle, K. A., Hiratzka, L. F., Johnson, W. H., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000048 · Cited by 242 · see citing works
Turner syndrome: a cytogenetic and molecular study
Jacobs, P. A., DALTON, P., James, R. S., et al. (1997) · Annals of Human Genetics · doi:10.1046/j.1469-1809.1997.6160471.x · Cited by 227 · see citing works
Oktay, K., Bedoschi, G., Berkowitz, K. M., BRONSON, R. A., Kashani, B. N., McGovern, P. G., Pal, L., Quinn, G. P., & Rubin, K. (2015) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2015.10.011 · Cited by 210 · see citing works
Karnis, M. F., Zimon, A. E., Lalwani, S. I., Timmreck, L. S., Klipstein, S., & Reindollar, R. H. (2003) · Fertility and Sterility · doi:10.1016/s0015-0282(03)00974-9 · Cited by 206 · see citing works
Follicles Are Found in the Ovaries of Adolescent Girls with Turner's Syndrome
Hreinsson, J. G., Otala, M., Fridström, M., Borgström, B., Rasmussen, C., Lundqvist, M., Tuuri, T., Simberg, N. H., Mikkola, M., Dunkel, L., et al. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.8.8753 · Cited by 192 · see citing works
Pregnancy rate and outcome in Swedish women with Turner syndrome
Bryman, I., Sylvén, L., Berntorp, K., Innala, E., Bergström, I., Hanson, C., Oxholm, M., & Landin-Wilhelmsen, K. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.12.039 · Cited by 190 · see citing works
Hadnott, T. N., Gould, H. N., Gharib, A. M., & Bondy, C. A. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2011.03.085 · Cited by 153 · see citing works
Oktay, K., & Bedoschi, G. (2014) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2014.01.003 · Cited by 110 · see citing works
Oktay, K., Rodriguez‐Wallberg, K. A., & Şahin, G. (2010) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.01.044 · Cited by 98 · see citing works
Mamsen, L. S., Charkiewicz, K., Anderson, R. A., Telfer, E. E., McLaughlin, M., Kelsey, T. W., Kristensen, S. G., Gook, D. A., Ernst, E., & Andersen, C. Y. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2019.02.003 · Cited by 86 · see citing works
Fertility issues and pregnancy outcomes in Turner syndrome
Calanchini, M., Aye, C. Y. L., Orchard, E., Baker, K., Child, T., Fabbri, A., Mackillop, L., & Turner, H. E. (2020) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.03.002 · Cited by 68 · see citing works
Peek, R., Schleedoorn, M., Smeets, D., van de Zande, G., Groenman, F., Braat, D., van der Velden, J., & Fleischer, K. (2019) · Human Reproduction · doi:10.1093/humrep/dez135 · Cited by 67 · see citing works
Landuyt, L. V., Polyzos, N. P., Munck, N. D., Blockeel, C., de Velde, H. V., & Verheyen, G. (2015) · Human Reproduction · doi:10.1093/humrep/dev218 · Cited by 63 · see citing works
Roelens, C., Santos‐Ribeiro, S., Becu, L., Mackens, S., Landuyt, L. V., Racca, A., Vos, M. D., van de Vijver, A., Tournaye, H. J., & Blockeel, C. (2020) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.03.017 · Cited by 46 · see citing works
Self-citationMunck, N. D., Belva, F., de Velde, H. V., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew029 · Cited by 41 · see citing works
Oocyte cryopreservation in a woman with mosaic Turner syndrome: a case report.
Kavoussi, S. K., Fisseha, S., Smith, Y. R., Smith, G. D., Christman, G. M., & Gago, L. A. (2008) · PubMed · Cited by 39 · see citing works
Cardiovascular outcomes of pregnancy in Turner syndrome
Grewal, J., Valente, A. M., Egbe, A. C., Wu, F. M., Krieger, E. V., Sybert, V. P., van Hagen, I. M., Beauchesne, L. M., Rodriguez, F. H., Broberg, C. S., et al. (2021) · Heart · doi:10.1136/heartjnl-2020-316719 · Cited by 38 · see citing works
New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome
Neto, J. M., de Carvalho, A. B., Marques‐de‐Faria, A. P., Guerra‐Júnior, G., & Maciel‐Guerra, A. T. (2016) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2015-0346 · Cited by 32 · see citing works
Vos, A. D., Landuyt, L. V., Rycke, M. D., Verdyck, P., Verheyen, G., Buysse, A., Belva, F., Keymolen, K., Tournaye, H. J., & Verpoest, W. (2020) · Human Reproduction · doi:10.1093/humrep/deaa236 · Cited by 32 · see citing works
Self-citationNadesapillai, S., van der Velden, J., Smeets, D., van de Zande, G., Braat, D., Fleischer, K., & Peek, R. (2021) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.11.006 · Cited by 31 · see citing works
Vergier, J., Bottin, P., Saias, J., Reynaud, R., Guillemain, C., & Courbiere, B. (2019) · Clinical Endocrinology · doi:10.1111/cen.14076 · Cited by 30 · see citing works
Turner syndrome-issues to consider for transition to adulthood
Lucaccioni, L., Wong, S. C., Smyth, A. R., Lyall, H., Dominiczak, A. F., Ahmed, S. F., & Mason, A. (2014) · British Medical Bulletin · doi:10.1093/bmb/ldu038 · Cited by 28 · see citing works
Munck, N. D., Santos‐Ribeiro, S., Stoop, D., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dev321 · Cited by 28 · see citing works
Markers of ovarian reserve in young girls with Turner's syndrome
Purushothaman, R., Lazareva, O., Oktay, K., & Ten, S. (2010) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.12.026 · Cited by 26 · see citing works
To Freeze or Not to Freeze? An Update on Fertility Preservation In Females with Turner Syndrome.
Schleedoorn, M., van der Velden, J. A. E. M., Braat, D. D. M., Peek, R., & Fleischer, K. (2019) · PubMed · doi:10.17458/per.vol16.2019.svb.tofreezeornot · Cited by 21 · see citing works
Gilés, J., Meseguer, M., Mercader, A., Rubio, C., Alegre, L., Vidal, C., Trabalón, M., & Bosch, E. (2020) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.04.003 · Cited by 20 · see citing works
Nawroth, F., Schüring, A. N., & von Wolff, M. (2020) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.13984 · Cited by 19 · see citing works
Nadesapillai, S., van der Velden, J. A. E. M., Braat, D. D. M., Peek, R., & Fleischer, K. (2021) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.14094 · Cited by 9 · see citing works
Evaluation of Turner Syndrome Knowledge among Physicians and Parents
Filibeli, B. E., Havare, N., Yılmaz, H. E., Yıldırım, J. G., Çatlı, G., & Dündar, B. N. (2019) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2019.2019.0041 · Cited by 3 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Gardner DK, Schoolcraft WB. In-vitro culture of human blastocysts. In: Jansen R, Mortimer D, editors. Towards reproductive certainty: fertility and genetics beyond 1999. Carnforth: Parthenon Press; 1999;378-88.
Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Nadesapillai, S., van der Velden, J., van der Coelen, S., Schleedoorn, M., Sedney, A., Spath, M., Schurink, M., Oerlemans, A., IntHout, J., Beerendonk, I., et al. (2023) · Fertility and Sterility · doi:10.1016/j.fertnstert.2023.08.004 · Cited by 38 · see citing works
Viuff, M., & Gravholt, C. H. (2022) · Annales d Endocrinologie · doi:10.1016/j.ando.2022.06.001 · Cited by 36 · see citing works
Rodriguez-Wallberg, K. A., Sergouniotis, F., Nilsson, H. P., & Lundberg, F. E. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1135249 · Cited by 29 · see citing works
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., et al. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12206502 · Cited by 13 · see citing works
Cheng, J., Ruan, X., Du, J., Jin, F., Gu, M., Wu, Y., & Mueck, A. O. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.959912 · Cited by 13 · see citing works
Więcek, M., Gawlik, J., Nowak, Z., & Gawlik, A. (2022) · Endocrine Connections · doi:10.1530/ec-22-0344 · Cited by 11 · see citing works
- Authors
- Strypstein, L., Van Moer, E., Nekkebroeck, J., Segers, I., Tournaye, H., Demeestere, I., Dolmans, M.-M., Verpoest, W., & De Vos, M.
- Affiliations
- Universitair Ziekenhuis Brussel (BE)
- Sechenov University (RU)
- Université Libre de Bruxelles (BE)
- Cliniques Universitaires Saint-Luc (BE)
- Vrije Universiteit Brussel (BE)
- Venue
- Journal of Assisted Reproduction and Genetics
- Published
- 2022-02
- Volume
- 39
- Issue
- 2
- Pages
- 543-549
- ISSN
- 0740-7769 (ISSN-L)
- 1058-0468
- 1573-7330
- PMC
- PMC8956750
- OpenAlex
- W4210744340
- Cited by
- 35
- References
- 33
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 5 · 2023: 11 · 2022: 7
- FWCI
- 6.61
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Assisted Reproduction and Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) (submittedVersion, other-oa)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion, other-oa)
- Funders
- Fonds National de la Recherche Scientifique de Belgique–the Excellence of Science (30443682)
- 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 › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Keywords
- Turner syndrome, mosaic Turner syndrome, oocyte vitrification, oocyte cryopreservation, fertility preservation, live birth, preimplantation genetic testing for aneuploidy, intracytoplasmic sperm injection, trophectoderm biopsy, blastocyst transfer, ovulation induction, GnRH antagonist protocol, miscarriage
- MeSH terms
- Female, Fertilization in Vitro, Humans, Oocytes, Pregnancy, Turner Syndrome, Cryopreservation, Live Birth, Vitrification, Fertility Preservation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
