Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: a prospective cohort study
Open accessAbstract
Background: In Scandinavian countries, programs for fertility preservation (FP) are offered free of charge at tertiary-care university hospitals to all patients facing infertility risks due to malignant diagnoses or benign conditions. In this prospective study we aimed to investigate trends and outcomes of FP indicated by a diagnosis of Turner syndrome. Methods: Prospective cohort study of patients with Turner karyotype receiving fertility preservation counselling at the Karolinska University Hospital between 1 January 1999 and 31 December 2021. Results: The cohort included 100 women and girls that received counselling, whereof 27% were prepubertal girls, 59% were adolescents and 14% of adult age. Before 2006 all patients were referred for fertility counselling at the time of Turner diagnosis. Based on updated guidelines, mainly patients who showed signs of puberty were referred after 2006. As a result, spontaneous menarche was more common in the later period. In total, 39% of the cohort had monosomal karyotype (45X), 20% had 45X/46XX or 45X/47XXX mosaicisms and 36% had an X-chromosomal structural anomaly. Ovarian tissue cryopreservation was planned for 73% of all patients, and oocyte cryopreservation following gonadotropin stimulation was planned for 10% of the patients. Follicles were present in 25% of all biopsies analyzed. Adolescents were more likely to have follicles present (30%) than prepubertal girls (16%) or adult women (17%). The ten patients that underwent gonadotropin stimulation for oocyte cryopreservation underwent a total of 15 cycles and eight patients successfully preserved oocytes. In total, 26% of the cohort has undergone fertility treatment or expressed further interest in fertility preservation. Six women have given birth using donated oocytes and three following spontaneous conception. Two women have undergone re-transplantation of cryopreserved ovarian tissue, without regaining ovarian function, and none of the women that have cryopreserved oocytes has returned to use them. Conclusion: Fertility counselling for girls with Turner syndrome should ideally be offered at onset of spontaneous puberty to improve the chances of fertility preservation. Since the girls and women in this cohort are still young, the return rate and utilization of the preserved tissue and oocytes is expected to increase with time. Clinical Trial Registration: ClinicalTrials.gov, identifier NTC04602962.
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Current knowledge on OTC in TS consists of four cohort studies and four case reports, involving a total of 185 TS patients with ages varying between 3 and 22 years.
“The current knowledge on OTC in TS consists of four cohort studies and four case reports, involving a total of 185 TS-patients with ages varying between 3 and 22 years.263,579,582,614”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [614]
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 [614]
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 [614]
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- Authors
- Rodriguez-Wallberg, K. A., Sergouniotis, F., Nilsson, H. P., & Lundberg, F. E.
- Affiliations
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
- Venue
- Frontiers in Endocrinology
- Publisher
- Frontiers Media SA
- Published
- 2023-03-03
- Volume
- 14
- Pages
- 1135249-1135249
- ISSN
- 1664-2392 (ISSN-L)
- PMC
- PMC10022431
- OpenAlex
- W4323051793
- Cited by
- 29
- References
- 30
- Citations by year
- 2026: 8 · 2025: 3 · 2024: 9 · 2023: 9
- FWCI
- 7.40
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Cancerfonden
- Karolinska Institutet
- Stockholms Läns Landsting
- Barncancerfonden
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, fertility preservation, ovarian tissue cryopreservation, oocyte cryopreservation, gonadotropin stimulation, fertility counseling, monosomal karyotype, ovarian follicle count, infertility risk, prepubertal girls, adolescents, young women, infertility treatment outcomes
- MeSH terms
- Female, Humans, Ovary, Prospective Studies, Sexual Maturation, Turner Syndrome, Fertility Preservation
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