2025/12/23 by Rafael Ferro, Federico Del Vento, Isabelle Streuli · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Prenatal Screening and Diagnostics #Reproductive Health and Technologies
paper · pdf · doi:10.1016/j.rbmo.2025.105438
openalex publication_date 2025/12/23 · openalex created_date 2025/12/23 · openalex updated_date 2026/07/22
Turner syndrome, a chromosomal disorder characterized by premature ovarian insufficiency and infertility, presents significant reproductive challenges. Fertility preservation is critical for enabling individuals with Turner syndrome to pursue biological parenthood. However, implementation is hindered by limited provider awareness, ethical concerns, and restricted access to specialized care. This review underscores the importance of fertility preservation in Turner syndrome, evaluates current methods, and addresses barriers and ethical complexities. Methods such as ovarian tissue cryopreservation, in-vitro maturation, and vitrification offer promise, while novel strategies such as in-vitro activation and gene expression profiling may improve outcomes. Nevertheless, success rates remain variable, and accessibility is limited. Major barriers include delayed diagnosis of Turner syndrome, inadequate fertility counselling, and insufficient provider training. Ethical challenges involve assessing the autonomy and psychological readiness of paediatric patients. Socio-economic disparities and inconsistent insurance coverage further impede access. Effective fertility preservation in patients with Turner syndrome requires early diagnosis, timely counselling, and a coordinated multidisciplinary approach. While advancements in fertility preservation are promising, broader implementation demands improved provider education, ethical guidance, and public policy reform. Ensuring equitable access to fertility preservation can significantly enhance reproductive autonomy and quality of life for individuals with Turner syndrome.