To investigate the association between X chromosome aneuploidy in ovarian somatic cells and peripheral blood lymphocytes and ovarian function in adolescents with mosaic Turner syndrome (TS).
Approach:
Participants: Five adolescents with mosaic TS aged 11–15 years underwent assessment of ovarian reserve markers and ovarian tissue cryopreservation.
Evaluation: Follicle density, expression of oocyte-specific markers, and X chromosome mosaicism in oocytes, granulosa cells, and ovarian stromal cells were evaluated.
Key Findings:
Reduced serum anti-Müllerian hormone (AMH) and inhibin B concentrations were observed in some participants despite normal gonadotropin levels.
All analyzed oocytes had a normal X chromosome complement.
Ovarian stromal cells were predominantly monosomic for the X chromosome.
Granulosa cells exhibited substantial intra- and inter-individual variability in X chromosome mosaicism.
Age-appropriate follicle density was observed only in participants with more than 60% non-monosomic granulosa cells.
Interpretation:
Ovarian function in adolescents with mosaic TS may be influenced by the chromosomal status of both oocytes and granulosa cells.
Limitations:
Small sample size limits generalizability of findings.
The exploratory nature of the study may not provide definitive conclusions.
Conclusion:
A comprehensive evaluation of ovarian reserve markers is important for counseling patients with TS.
by Anna Turchinets, Olga Stupko, Elena Uvarova, Polina Tsabai, Alina Badlaeva, Alexandra Asaturova, Nail Kamaletdinov, Elena Khashchenko, Zaira Kumykova, Dmitry Trofimov, Svetlana Yureneva, Alla Gavisova, Gennady Sukhikh
