Turner Syndrome and Fertility.

Area of Science:

• Reproductive Endocrinology
• Genetics
• Gynecology

Background:

• Turner syndrome (TS) is characterized by hypergonadotropic hypogonadism and ovarian dysgenesis, leading to infertility in most patients.
• Infertility significantly impacts the quality of life for individuals with TS.
• Hormone replacement therapy with female sex steroids is standard from early adolescence until natural menopause age.

Purpose of the Study:

• To review current and emerging options for motherhood for females with Turner syndrome.
• To highlight the challenges and risks associated with assisted reproductive technologies in TS.
• To emphasize the need for further research into the genetic underpinnings of ovarian dysgenesis in TS.

Main Methods:

• Review of current literature on fertility options and assisted reproductive technologies in Turner syndrome.
• Discussion of established treatments like hormone replacement therapy.
• Exploration of emerging techniques such as oocyte and ovarian tissue cryopreservation.

Main Results:

• Oocyte donation is a mainstream option, successful when preceded by optimal hormone therapy, but associated with increased cardiovascular risks.
• Oocyte and ovarian tissue cryopreservation are emerging options with unique challenges and ongoing research.
• Genomic studies show global DNA methylation and RNA expression changes in TS, suggesting potential mechanisms for ovarian dysgenesis, though direct ovarian tissue analysis is lacking.

Conclusions:

• Motherhood options for women with TS have expanded beyond adoption, with assisted reproductive technologies offering viable pathways.
• Pregnancies in TS patients undergoing oocyte donation require heightened vigilance due to increased cardiovascular risks.
• Understanding the genetic and epigenetic basis of ovarian dysgenesis in TS is crucial for developing targeted future research and treatments.