Rationale: Uncertainty about fertility is a major concern for girls with Turner syndrome (TS) and their parents. Physicians are often asked about options to preserve their fertility. However, despite some experimental case reports, clear evidence for fertility preservation in these girls is lacking and many questions remain. Without evidence on the effectiveness of fertility preservation it cannot routinely be offered to girls with ovarian failure due to TS.

Objectives: 1) To investigate the occurrence of live birth in women with TS after ovarian tissue cryopreservation (OTC) during childhood followed by auto transplantation during adulthood.
2) To describe the association between the number of follicles and the patient’s age, genotype and endocrine profile.

Study design: A prospective intervention study. Patients will be included in the Netherlands between 2018 and 2021.

Study population: 100 females with TS aged 2 through 18 years without contra-indications for the laparoscopic removal of ovarian tissue under general anaesthesia.

Methods: Ovarian cortical tissue will be harvested by performing a unilateral oophorectomy via laparoscopic approach. Cryopreservation of the ovarian tissue fragments will be performed according to the Dutch protocol ‘Cryopreservation and transplantation of ovarian tissue’ (Dutch Network for Fertility preservation, 2012). One small sample of the ovarian cortex will be used to assess the number of follicles. Furthermore, FISH analysis will be used to determine the number of X chromosomes in the oocyte. In all subjects, karyotyping on lymphocytes and buccal cells has been performed, and an additional blood sample of 3.5 mL will be taken for hormonal analysis (i.e. FSH, LH, AMH, oestradiol and inhibin B).

Preliminary results: As the first OTC procedures in girls with TS have been performed, we are now able to present our first results. Furthermore, we will address our informed consent procedure including a newly developed decision aid and focus on ethical considerations.