Fertility preservation in girls and adolescents with Turner syndrome: lessons for reproductive care in differences of sex development - a mini-review

Current knowledge regarding fertility preservation (FP) in girls is derived predominantly from pediatric oncology cohorts; however, FP is increasingly being applied to non-oncological conditions associated with impaired fertility, including differences of sex development (DSD). Turner syndrome (TS), characterized by accelerated germ cell depletion beginning during fetal life, represents the DSD condition with the greatest clinical experience in FP. This mini-review summarizes current evidence on ovarian tissue cryopreservation and oocyte cryopreservation in TS. Available data support the technical feasibility and general procedural safety of both approaches. A 46,XX cell line, spontaneous pubertal development, detectable AMH, and lower FSH concentrations are frequently associated with follicle detection or successful oocyte retrieval. However, evidence regarding utilization, pregnancy, and live birth remains very limited, and the reproductive effectiveness of FP in TS has not yet been established. Moreover, future cardiovascular eligibility for pregnancy and associated obstetric risks should be considered when counseling patients and families. Until long-term outcome data become available, individualized patient selection and multidisciplinary counseling are essential to provide realistic expectations regarding the potential benefits, limitations, and uncertainties of FP. Experience in TS may also inform reproductive care in other DSD conditions.