Ovarian function and X chromosome tissue mosaicism in adolescents with Turner syndrome and ongoing spontaneous puberty - Takeaways - MDSpire

Ovarian function and X chromosome tissue mosaicism in adolescents with Turner syndrome and ongoing spontaneous puberty

  • 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

  • July 7, 2026

  • 0 min

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  • 1

    Turner syndrome (TS) is characterized by X chromosome abnormalities, leading to a high risk of premature ovarian insufficiency.

  • 2

    This study evaluated ovarian function in five adolescents with mosaic TS who experienced spontaneous puberty.

  • 3

    Reduced serum anti-Müllerian hormone and inhibin B levels were noted despite normal gonadotropin levels in some participants.

  • 4

    Ovarian stromal cells were mostly monosomic for the X chromosome, while granulosa cells showed variability in X chromosome mosaicism.

  • 5

    The study highlights the need for comprehensive evaluation of ovarian reserve markers in counseling TS patients about fertility preservation.

Original Source(s)

Ovarian function and X chromosome tissue mosaicism in adolescents with Turner syndrome and ongoing spontaneous puberty

  • 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

  • July 7, 2026

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