The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes
Open accessAbstract
Purpose Characterize outcomes among adolescents and young adults (AYAs) with sex chromosome disorders (SCDs) after oocyte cryopreservation (OC) consultation.Methods Retrospective case series of all AYA (< 25 years) patients with SCDs seen for OC consultation from 2011 to 2019 at a large, urban, academic fertility center. All AYA patients with an SCD seen for OC consult in the study time period were reviewed and included. Data collected included patient age, SCD type, number of patients who attempted OC, number of cycles attempted, and cycle outcomes.Results Twenty-two patients were included: 9 with Turner syndrome, 12 with mosaic Turner syndrome, and 1 with 47,XXX. Mean age at consult was 14.7 ± 3.5 years. Fourteen patients elected for OC: 5 with Turner syndrome, 8 with mosaic Turner syndrome, and 1 47,XXX who pursued 31 OC cycles total. Of those 14 patients, 10 underwent retrieval, 9 froze oocytes, and 8 froze mature (MII) oocytes. Seven patients underwent > 1 cycle and 7 had ≥ 1 cancelation. 3/3 patients who pursued cycles after 1st cancelation never got to retrieval. Age, SCD type, and baseline FSH did not predict ability to freeze MIIs. One patient returned after OC and attempted 4 ovulation induction cycles and 2 IVF cycles; all were canceled for low response.Conclusions AYA patients with SCDs have a high risk of poor response and cycle cancelation but the majority froze MIIs. Thus, setting expectations is important. A larger sample size is needed to evaluate possible clinical predictors of success.
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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 [599]
In one retrospective study, Martel et al. found age, karyotype, and FSH had no correlation with the number of vitrified oocytes.
“In one retrospective study Martel at al. found that age, karyotype and FSH had no correlation with the number of vitrified oocytes,599 while in the largest retrospective study to date Nadesapillai et al. reported that the percentage of 46, XX cells, FSH, AMH and antral follicle count had a significant correlation with the cumulative number of vitrified oocytes.578”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [599]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Martel, R. A., Blakemore, J. K., & Fino, M. E.
- Affiliations
- New York University (US)
- NYU Langone Health (US)
- Corresponding author
- Martel, Rachel A.
- Venue
- Journal of Assisted Reproduction and Genetics
- Published
- 2022-03-23
- Volume
- 39
- Issue
- 5
- Pages
- 1143-1153
- ISSN
- 0740-7769 (ISSN-L)
- 1058-0468
- 1573-7330
- PMC
- PMC9107557
- OpenAlex
- W4220672937
- Cited by
- 17
- References
- 41
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 5 · 2022: 1
- FWCI
- 3.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Assisted Reproduction and Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- 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 › Physiology › Reproductive biology and impacts on aquatic species
- Keywords
- oocyte cryopreservation, fertility preservation, sex chromosome abnormalities, Turner syndrome, mosaic Turner syndrome, 47,XXX, adolescents and young adults, oocyte retrieval, metaphase II oocytes, poor ovarian response, cycle cancellation, ovulation induction, in vitro fertilization
- MeSH terms
- Adolescent, Female, Humans, Male, Oocytes, Retrospective Studies, Sex Chromosome Aberrations, Trisomy, Turner Syndrome, Cryopreservation, Chromosomes, Human, X, Oocyte Retrieval, Sex Chromosome Disorders of Sex Development, Fertility Preservation
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