ArticleJournal of assisted reproduction and genetics2022
First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.
Article in Journal of assisted reproduction and genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Clinical practice guidelines for the management of differences of sex development in Japan.Endocrine journal · 2026Guideline
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Fertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians: A Pilot Cross-Sectional Survey Study.Journal of pediatric and adolescent gynecology · 2026Article
- Clinical practice guidelines for the management of differences of sex development in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Review
- Fertility issues and pregnancy outcomes in females with partial X-chromosome deletions: a retrospective observational cohort study.BMC pregnancy and childbirth · 2025Observational
- A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications.Journal of assisted reproduction and genetics · 2025Article
- Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.Human reproduction update · 2024Article
- Article
- Oocyte cryopreservation with in vitro maturation for fertility preservation in girls at risk for ovarian insufficiency.Journal of assisted reproduction and genetics · 2023Article
- Reproductive Outcomes of Women with Turner Syndrome Undergoing Oocyte Vitrification: A Retrospective Multicenter Cohort Study.Journal of clinical medicine · 2023Article
- Fertility Preservation as an Option for Women with Genetic Disorders: Insights from a SWOT Analysis on Elective Oocyte Freezing and Preimplantation Genetic Testing.Life (Basel, Switzerland) · 2023Article
- AMH and other markers of ovarian function in patients with Turner syndrome - a single center experience of transition from pediatric to gynecological follow up.Frontiers in endocrinology · 2023Review
- Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: A prospective cohort study.Frontiers in endocrinology · 2023Article
- Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.Frontiers in endocrinology · 2023Review
- Reproductive health in Turner's syndrome: from puberty to pregnancy.Frontiers in endocrinology · 2023Review
- Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature.Endocrine connections · 2022Review
- LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.Journal of assisted reproduction and genetics · 2022Article
- Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.Frontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeTo report the case of a young woman diagnosed with Turner syndrome (TS) who achieved a live birth using her own oocytes that had been vitrified for fertility preservation.
methodsA 25-year-old woman with mosaic (45,X/46,XX) TS was referred for fertility preservation (FP) counseling. Serum anti-Müllerian hormone (AMH) level was normal (6.4 µg/L). In view of the unpredictable rate of follicle loss in TS individuals, she requested FP and underwent two cycles of ovarian stimulation (OS) for oocyte cryopreservation (OoC) using a GnRH antagonist protocol and recombinant follicle stimulating hormone (rFSH), 200-250 IU daily for 8 resp. 12 days.
resultsIn total, 29 metaphase II oocytes (MII) were vitrified after OS. After conceiving spontaneously and achieving a live birth, she returned to the clinic five years after OoC with a desire for pregnancy using in vitro fertilization (IVF) of her cryopreserved oocytes and preimplantation genetic testing (PGT-A). All 29 MII oocytes were thawed; 23 oocytes survived (79.3%) and were inseminated with partner sperm using intracytoplasmic sperm injection (ICSI). Thirteen oocytes were fertilized resulting in three good quality blastocysts which were vitrified after trophectoderm biopsy for PGT-A using array-CGH. Two blastocysts were found to be euploid. One was thawed and transferred to the uterus using a HRT priming protocol. An uneventful pregnancy occurred. The patient delivered a healthy baby girl weighing 3490 g at 40 weeks of gestation.
conclusionsWe report the first live birth achieved using cryopreserved oocytes in a woman diagnosed with mosaic TS. Cryopreservation of oocytes after ovarian stimulation is a realistic option for FP in selected post menarche individuals with mosaic TS. Whether PGT-A may reduce the risk of pregnancy loss in TS has to be confirmed by further studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.