Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary
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OBJECTIVE: To report a case of a young girl initially diagnosed with exclusively 45,X Turner syndrome (TS), but with a cryptic mosaicism in the ovary. DESIGN: Case report. SETTING: Radboud University Medical Center in the Netherlands. PATIENT(S): A 14-year-old girl with TS showing an exclusively 45,X cell line in lymphocytes, buccal cells, and urine cells in the presence of ovarian follicles. INTERVENTION(S): Laparoscopic unilateral oophorectomy was performed to obtain ovarian cortex tissue for fertility preservation purposes. One cortex fragment was used to determine the number of follicles by serial sectioning and staining, to perform fluorescence in situ hybridization (FISH) analysis and an in vitro growth (IVG) assay. MAIN OUTCOME MEASURE(S): FISH analysis of ovarian cells and the capacity of unilaminar follicles to develop to secondary follicles. RESULT(S): FISH analysis revealed that most oocytes had a normal tetraploid X chromosomal content, the stromal cell compartment had both 45,X and 47,XXX cell lines, and all follicular granulosa cells had a 45,X karyotype. IVG assay showed that unilaminar follicles were capable of maturing to secondary follicles, but that the granulosa layers and membrana granulosa were distorted. CONCLUSION(S): We report a case where follicles were found in a girl with monosomic TS, in the presence of a cryptic mosaicism. Karyotyping of extraovarian cells was not predictive of the karyotype of ovarian cells in the same patient. Despite the presence of normal oocytes, our observation that all analyzed follicles contained exclusively 45,X granulosa cells embedded in mosaic 45,X/47,XXX stromal tissue may have functional consequences for follicular development. CLINICAL 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 [576]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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Self-citationWhy Turner patients with 45, X monosomy should not be excluded from fertility preservation services
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- Authors
- Nadesapillai, S., van der Velden, J., Smeets, D., van de Zande, G., Braat, D., Fleischer, K., & Peek, R.
- Affiliations
- Radboud University Medical Center (NL)
- Corresponding author
- Nadesapillai, Sapthami
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2021-05
- Volume
- 115
- Issue
- 5
- Pages
- 1280-1287
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W3113010464
- Cited by
- 31
- References
- 28
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 7 · 2023: 5 · 2022: 6 · 2021: 4
- FWCI
- 2.20
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Ferring
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, ovarian follicles, female fertility, granulosa cells, 47,XXX, folliculogenesis, fertility preservation, oophorectomy, ovarian cortex
- MeSH terms
- Adolescent, Female, Fertility, Ovarian Follicle, Humans, Mosaicism, Netherlands, Ovariectomy, Ovary, Turner Syndrome, Cryopreservation, Fertility Preservation, Karyotype
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