Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services
Open accessAbstract
In this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy and an unmeasurable anti-müllerian hormone serum level. We compare our results with previous research, highlight the challenges we faced in this case and provide recommendations for daily practice. Hereby, we demonstrate that excluding certain subgroups of Turner Syndrome patients (e.g. monosomy patients, and/or girls with an anti-müllerian hormone level below 2.0 ng/l) may be premature, especially based on the current state of published research data. This practical example of a challenging dilemma in the counselling of Turner Syndrome patients for fertility preservation is of interest for clinicians involved in fertility counselling and Turner Syndrome care.
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?
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 [575]
Timing of follicular atresia for any individual with TS is difficult to predict.
“Because timing of follicular atresia for any individual is difficult to predict, there are no standardized approaches to referral for fertility preservation among pediatric providers, beyond referring only those who have spontaneous puberty.281,575,614”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [575]
There are no standardized approaches to referral for fertility preservation among pediatric providers, beyond referring only those who have spontaneous puberty.
“Because timing of follicular atresia for any individual is difficult to predict, there are no standardized approaches to referral for fertility preservation among pediatric providers, beyond referring only those who have spontaneous puberty.281,575,614”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [575]
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
Livebirth after orthotopic transplantation of cryopreserved ovarian tissue
Donnez, J., Dolmans, M., Demylle, D., Jadoul, P., Pirard, C., Squifflet, J. P., Martínez-Madrid, B., & Langendonckt, A. V. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17222-x · Cited by 1,634 · see citing works
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
Meirow, D., Levron, J., Eldar‐Geva, T., Hardan, I., Fridman, E., Zalel, Y., Schiff, E., & Dor, J. (2005) · New England Journal of Medicine · doi:10.1056/nejmc055237 · Cited by 854 · see citing works
Ovarian Function after Transplantation of Frozen, Banked Autologous Ovarian Tissue
Oktay, K., & Karlikaya, G. (2000) · New England Journal of Medicine · doi:10.1056/nejm200006223422516 · Cited by 570 · see citing works
Donnez, J., Dolmans, M., Pellicer, A., et al. (2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.03.030 · Cited by 550 · see citing works
Hook, E. B. (1977) · PubMed · Cited by 502 · see citing works
Live birth after autograft of ovarian tissue cryopreserved during childhood: Figure 1
Demeestere, I., Simon, P., Dedeken, L., Moffa, F., Tsépélidis, S., Brachet, C., Delbaere, A., Devreker, F., & Ferster, A. (2015) · Human Reproduction · doi:10.1093/humrep/dev128 · Cited by 400 · see citing works
Radford, J. A., Lieberman, B. A., Brison, D., et al. (2001) · The Lancet · doi:10.1016/s0140-6736(00)04335-x · Cited by 353 · see citing works
Metaphase II oocytes from human unilaminar follicles grown in a multi-step culture system
McLaughlin, M., Albertini, D. F., Wallace, W. H., Anderson, R. A., & Telfer, E. E. (2018) · Molecular Human Reproduction · doi:10.1093/molehr/gay002 · Cited by 322 · see citing works
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perrière, A., Albarel, F., Fèvre, A., Kerlan, V., Brue, T., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew012 · Cited by 266 · see citing works
Birgit, B., Julius, H., Carsten, R., Maryam, S., Gabriel, F., Victoria, K., Margareta, F., & Outi, H. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0708 · Cited by 254 · see citing works
Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads
Modi, D. N. (2003) · Molecular Human Reproduction · doi:10.1093/molehr/gag031 · Cited by 253 · see citing works
Hook, E. B., & Warburton, D. (2014) · Human Genetics · doi:10.1007/s00439-014-1420-x · Cited by 236 · see citing works
Jadoul, P., Guilmain, A., Squifflet, J. P., Luyckx, M., Votino, R., Wyns, C., & Dolmans, M. (2017) · Human Reproduction · doi:10.1093/humrep/dex040 · Cited by 211 · 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
Ovarian surgery for bilateral endometriomas influences age at menopause
Coccia, M. E., Rizzello, F., Mariani, G., Bulletti, C., Palagiano, A., & Scarselli, G. F. (2011) · Human Reproduction · doi:10.1093/humrep/der286 · Cited by 177 · see citing works
Turner syndrome: four challenges across the lifespan
Sutton, E. J., McInerney‐Leo, A., Bondy, C. A., Gollust, S. E., King, D., & Biesecker, B. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30911 · Cited by 171 · see citing works
Dittrich, R., Hackl, J., Lotz, L., et al. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2014.10.045 · Cited by 148 · see citing works
Number of ovarian follicles in human fetuses with the 45,x karyotype
Reynaud, K., Cortvrindt, R. G., Verlinde, F., Schepper, J. D., Bourgain, C., & Smitz, J. E. J. (2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.12.011 · Cited by 146 · see citing works
Is unilateral oophorectomy associated with age at menopause? A population study (the HUNT2 Survey)
Bjelland, E. K., Wilkosz, P., Tanbo, T. G., & Eskild, A. (2014) · Human Reproduction · doi:10.1093/humrep/deu026 · Cited by 126 · see citing works
Lunding, S. A., Aksglaede, L., Anderson, R. A., Main, K. M., Juul, A., Hagen, C. P., & Pedersen, A. T. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-1621 · Cited by 125 · see citing works
Fertility preservation in Turner syndrome
Grynberg, M., Bidet, M., Bénard, J., Poulain, M., Sonigo, C., Cédrin‐Durnerin, I., & Polak, M. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.11.042 · Cited by 124 · see citing works
von Wolff, M., Dittrich, R., Liebenthron, J., Nawroth, F., Schüring, A. N., Bruckner, T. M., & Germeyer, A. (2015) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2015.07.013 · Cited by 103 · 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
Middle-aged women with Turner's syndrome. Medical status, hormonal treatment and social life
Sylvén, L., Hagenfeldt, K., Brøndum‐Nielsen, K., & von Schoultz, B. (1991) · European Journal of Endocrinology · doi:10.1530/acta.0.1250359 · Cited by 83 · see citing works
Mazzanti, L., CACCIARI, E., Bergamaschi, R., Tassinari, D., Magnani, C., Perri, A., Scarano, E., & Pluchinotta, V. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70137-9 · Cited by 81 · see citing works
DudokdeWit, A. C., Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., Passchier, J., Trijsburg, R. W., & Workgroup, T. R. G. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980106)75:1 · Cited by 78 · see citing works
Jensen, A. K., Rechnitzer, C., Macklon, K. T., Ifversen, M., Birkebæk, N., Clausen, N., Sørensen, K., Fedder, J., Ernst, E., & Andersen, C. Y. (2016) · Human Reproduction · doi:10.1093/humrep/dew273 · Cited by 78 · see citing works
Βouchlariotou, S., Tsikouras, P. N., Dimitraki, M., Athanasiadis, A. P., Papoulidis, I., Maroulis, G., Liberis, A., & Liberis, V. (2010) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2010.520769 · Cited by 71 · 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
Self-citationFreriks, K., Timmers, H. J. L. M., Netea-Maier, R. T., Beerendonk, C. C. M., Otten, B. J., van der Velden, J. A. E. M., Traas, M. A. F., Mieloo, H., van de Zande, G. W. H. J. F., Hoefsloot, L. H., et al. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.07.008 · Cited by 59 · see citing works
Hewitt, J. K., Jayasinghe, Y., Amor, D. J., Gillam, L. H., Warne, G. L., Grover, S. R., & Zacharin, M. (2013) · Clinical Endocrinology · doi:10.1111/cen.12288 · Cited by 59 · see citing works
Liebenthron, J., REINSBERG, J., van der Ven, K., et al. (2019) · Human Reproduction · doi:10.1093/humrep/dez215 · Cited by 46 · see citing works
Cleemann, L. H., Holm, K., Fallentin, E., Skouby, S. O., Smedegaard, H., Møller, N. K., Borch‐Christensen, H., Jeppesen, E. M., Wieslander, S. B., Andersson, A., et al. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.03995.x · Cited by 44 · see citing works
Nadesapillai, 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
Self-citationAdded value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome
Graff, A., Donadille, B., Morel, H., Villy, M. C., Bourcigaux, N., Vatier, C., Borgel, A., Khodawardi, A., Siffroi, J. P., & Christin-Maitre, S. (2020) · Human Reproduction · doi:10.1093/humrep/deaa197 · Cited by 30 · see citing works
Ovarian tissue cryopreservation using vitrification and/orin vitroactivated technology
Suzuki, N. (2015) · Human Reproduction · doi:10.1093/humrep/dev212 · Cited by 26 · see citing works
Morgan, T. L., Kapa, H. M., Crerand, C. E., Kremen, J., Tishelman, A. C., Davis, S., & Nahata, L. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2019.05.010 · Cited by 26 · see citing works
Peek, R., Bastings, L., Westphal, J. R., et al. (2015) · Human Reproduction · doi:10.1093/humrep/dev013 · Cited by 25 · see citing works
Self-citationNew international Turner syndrome guideline: a multi-society feat
Gravholt, C. H., & Backeljauw, P. F. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0540 · Cited by 21 · see citing works
van Hagen, I. M., Duijnhouwer, A. L., Ten Kate-Booij, M. J., Dykgraaf, R. H. M., Duvekot, J. J., Utens, E. M. W. J., & Roos-Hesselink, J. W. (2017) · Journal of Psychosomatic Obstetrics & Gynecology · doi:10.1080/0167482x.2016.1216961 · Cited by 10 · see citing works
Flagged first, then by citations
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
Self-citationNadesapillai, 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
Self-citationPeek, R., Nadesapillai, S., Thi Nguyen, T. Y., Vassart, S., Smeets, D., van de Zande, G., Camboni, A., Braat, D., van der Velden, J., Donnez, J., et al. (2023) · Fertility and Sterility · doi:10.1016/j.fertnstert.2023.04.008 · Cited by 30 · see citing works
Self-citationCheng, 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
- Authors
- Schleedoorn, M., Fleischer, K., Braat, D., Oerlemans, A., van der Velden, A., & Peek, R.
- Affiliations
- Radboud University Medical Center (NL)
- ORCID
- Venue
- Reproductive Biology and Endocrinology
- Published
- 2022-09-22
- Volume
- 20
- Issue
- 1
- Pages
- 143-143
- ISSN
- 1477-7827 (ISSN-L)
- PMC
- PMC9494871
- OpenAlex
- W4296625329
- Cited by
- 20
- References
- 41
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 7 · 2023: 3 · 2022: 2
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Reproductive Biology and Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Merck B.V. The Netherlands (A16- 1395)
- 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, 45,X monosomy, ovarian tissue cryopreservation, fertility preservation, anti-Müllerian hormone, ovarian follicles, fertility counseling, adolescent girls, ovarian reserve
- MeSH terms
- Adolescent, Female, Humans, Monosomy, Turner Syndrome, Cryopreservation, Anti-Mullerian Hormone, 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
