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
Clinical Scorecard: Ovarian Activity and X Chromosome Mosaicism in Adolescents with Turner Syndrome Experiencing Natural Puberty
At a Glance
Category Detail
Condition Turner Syndrome Key Mechanisms X chromosome mosaicism and its impact on ovarian function Target Population Adolescents with mosaic Turner Syndrome Care Setting Gynecology Department of a National Medical Research Center
Key Highlights
Ovarian function in mosaic Turner Syndrome may relate to X chromosome status in granulosa cells. Normal gonadotropin levels observed despite reduced serum AMH and inhibin B in some participants. Age-appropriate follicle density was noted in participants with more than 60% non-monosomic granulosa cells. Guideline-Based Recommendations
Diagnosis
Karyotype analysis of peripheral blood lymphocytes is essential for diagnosing Turner Syndrome. Management
Consider fertility preservation strategies such as ovarian tissue cryopreservation. Monitoring & Follow-up
Evaluate ovarian reserve markers and assess sexual maturation using Tanner staging. Risks
High risk of premature ovarian insufficiency in individuals with Turner Syndrome. Patient & Prescribing Data
Adolescents aged 11-15 years with mosaic Turner Syndrome
Spontaneous menarche and menstrual cycles occur in 10-20% of affected adolescents.
Clinical Best Practices
Comprehensive evaluation of ovarian reserve markers is crucial for counseling patients regarding fertility. Related Resources & Content
