Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature
Open accessAbstract
Loss of fertility is one of the most important concerns facing Turner syndrome (TS) patients as they transition into adult health care. Due to the limited and rapidly decreasing ovarian reserve, many TS patients require fertility preservation (FP) techniques to preserve their reproductive potential until they are ready to pursue procreation. One has to also remember about the additional risks connected with pregnancy in TS patients. In order to determine the optimal time for introducing FP techniques and decrease the chance of an unnecessary intervention, markers and procedures assessing ovarian reserve have been developed. The exposure to potential cardiovascular complications should be determined before FP to avoid unnecessary procedures in patients with potential contraindications to pregnancy. The aim of the present review is to answer the following three questions important for successful preservation of fertility and safe pregnancy in TS: which markers of ovarian reserve should be used as selection criteria for FP? Which methods of FP are the safest and most effective? Are there any cardiovascular contraindications to FP? For each of those questions, separate literature searches have been conducted. A total of 86 articles have been included in this review: 34 for the first question, 35 for the second, and 17 for the third. Ovarian reserve markers and cardiovascular contraindications to pregnancy should be established before FP; hoverer, there are no unambiguous indicators as to which patients should be disqualified from the FP and more evidence is needed in this subject.
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Biochemical screening with AMH may allow physicians to set some expectations for the likelihood of successful oocyte retrieval prior to referral.
“Biochemical screening with AMH may allow physicians to set some expectations for the likelihood of successful oocyte retrieval prior to referral,626 avoiding “false hope” for patients and families.566”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [626]
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Karyotype is associated with timing of ovarian failure in women with Turner syndrome
Fitz, V. W., Law, J. R., & Peavey, M. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0304 · Cited by 11 · see citing works
Ruszała, A., Wójcik, M., & Starzyk, J. (2020) · Pediatric Endocrinology Diabetes and Metabolism · doi:10.5114/pedm.2020.95622 · Cited by 10 · see citing works
Cornelisse, S., Ramos, L., Arends, B., der Vlugt, J. J. B.-V., de Bruin, J. P., Curfs, M. H. J. M., Derhaag, J. G., van Dongen, A. J. C. M., van Echten‐Arends, J., Groenewoud, E. R., et al. (2021) · BMJ Open · doi:10.1136/bmjopen-2020-042395 · Cited by 9 · see citing works
Deligeoroglou, E., Stergioti, E., Dimopoulos, K., Karountzos, V., & Prapas, Y. (2016) · Journal of Obstetrics and Gynaecology · doi:10.3109/01443615.2015.1103714 · Cited by 8 · see citing works
Current situation and outcomes of pregnancy in women with Turner syndrome in Japan
Obata, S., Tsuburai, T., Shindo, R., Aoki, S., Miyagi, E., & Sakakibara, H. (2020) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.14352 · Cited by 5 · see citing works
Volodarsky‐Perel, A., Zajicek, M., Shai, D., Raanani, H., Gruber, N., Gideon, K., & Meirow, D. (2021) · Human Reproduction · doi:10.1093/humrep/deab130.448 · Cited by 1 · see citing works
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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
Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX
Rogol, A. D. (2023) · Endocrine Connections · doi:10.1530/ec-22-0440 · Cited by 18 · see citing works
Approach to the Patient With Turner Syndrome
Turner, H. E., Johannsen, E. B., Smyth, A., Orchard, E., & Gravholt, C. H. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf517 · Cited by 11 · see citing works
Witkowska-Krawczak, E., Erazmus, M., Majcher, A., Pyrżak, B., & Kucharská, A. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1173419 · Cited by 5 · see citing works
Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00002-1 · Cited by 4 · see citing works
Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success
Nahata, L., Verlinde, F., Stochholm, K., & Gutmark‐Little, I. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32131 · Cited by 2 · see citing works
Editorial: Transition to adulthood in Turner syndrome
Więcek, M., Donaldson, M., & Gawlik, A. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1431972 · Cited by 3 · see citing works
Więcek, M., Olczak, Z., Machnikowska-Sokołowska, M. D., Błaszczyk, E., Wójcik, M., Mazur, A., Starzyk, J., Kusa, J., & Gawlik, A. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1622222 · Cited by 1 · see citing works
Garcia-Nuñez, M. A., & Castillo, Y. M. C. (2024) · MQRInvestigar · doi:10.56048/mqr20225.8.2.2024.3609-3626
Delayed Puberty Onset and Hypogonadism
Roberts, S. A., & Stafford, D. E. J. (2024) · Springer eBooks · doi:10.1007/978-3-031-66296-6_24
Fertility preservation in patients with Turner syndrome: a SWOT analysis
Ferro, R., Vento, F. D., & Streuli, I. (2025) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2025.105438
- Authors
- Więcek, M., Gawlik, J., Nowak, Z., & Gawlik, A.
- Affiliations
- Medical University of Silesia (PL)
- Jagiellonian University (PL)
- Corresponding author
- Gawlik, Aneta
- Venue
- Endocrine Connections
- Publisher
- Bioscientifica
- Published
- 2022-12-01
- Volume
- 11
- Issue
- 12
- ISSN
- 2049-3614 (ISSN-L)
- PMC
- PMC9641775
- OpenAlex
- W4300817226
- Cited by
- 11
- References
- 97
- Citations by year
- 2025: 4 · 2024: 5 · 2023: 2
- FWCI
- 0.55
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Endocrine Connections (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- 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, fertility preservation, ovarian reserve, ovarian reserve markers, ovarian reserve testing, adolescent to adult transition
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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.
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