Abstract STUDY QUESTION What are the outcomes for prepubertal and pubertal girls with Turner syndrome (TS) in terms of fertility counselling and preservation? SUMMARY ANSWER Fertility counselling is crucial for prepubertal and pubertal girls with TS, as it can facilitate their pursuit of fertility preservation (FP), primarily through oocyte cryopreservation (OC) and is particularly relevant for patients with blood karyotype abnormality with good prognosis for future fertility. WHAT IS KNOWN ALREADY TS is a common genetic condition affecting ∼1 in 2500 live-born girls. One consequence of TS is premature ovarian insufficiency, significantly impacting the quality of life in adulthood. Therefore, appropriate counselling and effective FP or solutions are essential. When OC is proposed, the role of anti-Müllerian hormone (AMH) and FSH in predicting the outcomes of OC has been examined in the literature with controversial data. STUDY DESIGN, SIZE, DURATION This retrospective observational study was conducted at the Reproductive Biology Laboratory-CECOS of Rouen University Hospital, evaluating the follow-up of 40 prepubertal and pubertal girls with TS referred for fertility counselling. Clinical and biological data were collected from medical records between January 2008 and December 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS Prepubertal and pubertal patients with TS attended a fertility counselling consultation, accompanied by their parents or legal guardian if they were under the age of 18 years. The impact of TS on future fertility and potential FP procedures, including OC, were explained. An assessment of ovarian reserve was conducted. Based on the results and depending on the patient’s pubertal status, FP could be initiated immediately in TS patients with spontaneous menarche or follow-up could continue until spontaneous puberty and menarche occur. MAIN RESULTS AND THE ROLE OF CHANCE In terms of FP, 25% (10/40) of the patients underwent OC. On average, 4.9 ± 3.8 oocytes per controlled ovarian hyperstimulation cycle were cryopreserved. No relationship was found between basal FSH or AMH serum level, karyotype abnormalities, and the number of mature oocytes retrieved. Conversely, a positive correlation was observed between the peak estradiol level at the time of triggering and the number of mature oocytes retrieved. In the multiple linear regression analysis with cross-validation, the peak estradiol level at triggering remained the only variable independently associated with mature oocyte yield. Most patients were aware of the impact of TS on future fertility but were uninformed about available parenthood alternatives. LIMITATIONS, REASONS FOR CAUTION The number of TS patients included in our study is a limitation, as well as the monocentric and retrospective nature of the study. Therefore, our data should be interpreted with caution. WIDER IMPLICATIONS OF THE FINDINGS Fertility counselling and FP are essential for prepubertal and pubertal TS patients. Regular and systematic follow-up of ovarian reserve and function should be implemented in their medical care. OC is a feasible option for some TS patients and should be considered after menarche but delayed until further pubertal maturation to allow robust patient engagement in the decision-making process. Further studies are needed to evaluate factors influencing the number of mature oocytes retrieved and the optimal number of oocytes necessary to ensure a good chance of pregnancy. STUDY FUNDING/COMPETING INTEREST(S) This work had institutional financial support from Rouen University Hospital. The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER N/A.
Sage et al. (Wed,) studied this question.