Fertility preservation in Turner syndrome: karyotype does not predict ovarian response to stimulation
Abstract
OBJECTIVE: Turner syndrome (TS) is responsible for gonadal dysgenesis with high risk of premature ovarian insufficiency. Little is known about fertility preservation (FP) strategies is this population. DESIGN: Data from women with TS consulting with a fertility specialist in our FP centre from 2014 to 2018 were retrospectively collected. MEASUREMENT: Total number of mature oocytes cryopreserved using vitrification. PATIENTS: Nine women with TS were referred. Three women with different karyotypes underwent controlled ovarian stimulation (COS) for oocyte vitrification. Mean age at TS diagnosis was 13.7 years [9-20]. Mean referral delay between TS diagnosis and fertility consultation was 9.7 years [7-14]. First counselling for FP was provided at 23.7 years [18-28]. Mean AMH serum level prior to COS was 53.8 pmol/L [3.6-95]. RESULTS: All three women succeeded in obtaining cryopreserved oocytes with a mean number of 15.3 per woman [9-20] and 9.2 per COS cycle [2-20]. Ovarian response to COS was unexpectedly remarkable for the woman with a complete 45,X monosomy. Procedure was well tolerated for all women. None of them have used oocytes for in vitro fertilization yet. CONCLUSIONS: Independently of karyotype, antral follicular count, AMH and FSH levels seemed to be reliable predictive markers of oocyte cryopreservation success. In a monosomic TS woman, cryptic ovarian mosaicism could explain a successful ovarian response to stimulation with a high number of retrieved oocytes. In case of spontaneous menarche, TS adolescents should be referred during transition to adulthood for FP counselling to avoid referral delay and limit time-related diminished ovarian reserve.
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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 [598]
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- Authors
- Vergier, J., Bottin, P., Saias, J., Reynaud, R., Guillemain, C., & Courbiere, B.
- Affiliations
- Assistance Publique Hôpitaux de Marseille (FR)
- Assistance‐Publique des Hôpitaux de Marseille (AP‐HM) Pôle Femmes‐Parents‐Enfants Centre Clinico‐biologique AMP‐CECOS Plateforme Cancer et Fertilité ONCOPACA‐Corse Marseille France
- Inserm (FR)
- Corresponding author
- Vergier, Julia
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2019-09-15
- Volume
- 91
- Issue
- 5
- Pages
- 646-651
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2967775652
- Cited by
- 30
- References
- 36
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 6 · 2022: 8 · 2021: 4 · 2020: 4
- FWCI
- 3.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- HAL AMU (submittedVersion)
- 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, oocyte vitrification, controlled ovarian stimulation, ovarian response prediction, karyotype, premature ovarian insufficiency, gonadal dysgenesis, antral follicle count, anti-Müllerian hormone, late referral
- MeSH terms
- Adolescent, Adult, Child, Female, Follicle Stimulating Hormone, Humans, Retrospective Studies, Turner Syndrome, Cryopreservation, Primary Ovarian Insufficiency, Anti-Mullerian Hormone, Young Adult, Fertility Preservation, Karyotype
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