TurnerFertility trial: PROTOCOL for an observational cohort study to describe the efficacy of ovarian tissue cryopreservation for fertility preservation in females with Turner syndrome
Open accessAbstract
OBJECTIVE: To investigate the occurrence of live birth in women with Turner syndrome (TS) after ovarian tissue cryopreservation in childhood followed by auto transplantation in adulthood and to find reliable prognostic markers for estimating the ovarian reserve in girls with TS in the future. SETTING: An observational cohort study with long-term follow-up in a tertiary fertility clinic in the Netherlands. Patients recruitment between January 2018 and December 2021. PARTICIPANTS: 100 females aged 2 through 18 years with classical Turner (ie, 45,X0) or Turner variants (ie, 45,X mosaicism or structural anomalies). Girls with Y chromosomal content, minor X deletions with marginal impact on fertility, active HIV, hepatitis B or hepatitis C infection, and/or an absolute contra indication for surgery, anaesthesia or future pregnancy will be excluded. INTERVENTIONS: Ovarian cortical tissue will be harvested by performing a unilateral oophorectomy via laparoscopic approach. Ovarian cortex fragments will be prepared and cryopreserved. One fragment per patient will be used to determine follicular density by conventional histology, and to perform fluorescence in situ hybridisation analysis of ovarian cells. Routine chromosome analysis will be performed on both lymphocytes and buccal cells. A blood sample will be taken for hormonal analysis and all subjects will undergo a transabdominal ultrasound to determine the uterine and ovarian size. Patient characteristics, pregnancy rates and pregnancy outcomes will be collected from the patient's medical record. ETHICS AND DISSEMINATION: The study protocol has been approved by the Central Committee on Research Involving Human Subjects in November 2017 (CCMO NL57738.000.16). TRIAL REGISTRATION NUMBER: NCT03381300.
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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 [573]
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Research works printed but not linked: 3
- [24]Van der Ven H, Liebenthron J, Beckmann M, et al Ninety-Five orthotopic transplantations in 74 women of ovarian tissue after cytotoxic treatment in a fertility preservation network: tissue activity, pregnancy and delivery rates. Hum Reprod 2016; 31: 2031– 41. 10.1093/humrep/dew165 27378768 · DOI
- [52]Gravholt CH, Conway GS, Dekkers OM, et al Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinology 2017; 177: G1– 70. 28705803
- [56]Jensen AK, Kristensen SG, Macklon KT, et al Outcomes of transplantations of cryopreserved ovarian tissue to 41 women in Denmark. Hum Reprod 2015; 30: 2838– 45. 10.1093/humrep/dev230 26443605 · DOI
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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Self-citationThe changing face of Turner syndrome
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- Authors
- Schleedoorn, M., van der Velden, J., Braat, D., Beerendonk, I., van Golde, R., Peek, R., & Fleischer, K.
- Affiliations
- Radboud University Nijmegen (NL)
- Corresponding author
- Schleedoorn, Myra
- Venue
- BMJ Open
- Publisher
- BMJ
- Published
- 2019-12
- Volume
- 9
- Issue
- 12
- Pages
- e030855
- ISSN
- 2044-6055 (ISSN-L)
- PMC
- PMC6924773
- OpenAlex
- W2996615731
- Cited by
- 26
- References
- 57
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 5 · 2023: 6 · 2022: 7 · 2021: 1 · 2020: 3
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc
- Locations
- BMJ Open (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, cc-by-nc)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- Merck (A16-1395 (unconditional funding))
- 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, ovarian tissue cryopreservation, fertility preservation, live birth, ovarian reserve, prognostic factors, follicular density, pregnancy outcomes
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Ovary, Research Design, Time Factors, Turner Syndrome, Cohort Studies, Cryopreservation, Treatment Outcome, Fertility Preservation, Observational Studies as Topic, Ovarian Reserve
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