The indication for fertility preservation in women with Turner syndrome should not only be based on the ovarian reserve but also on the genotype and expected future health status

Abstract

Turner syndrome summarizes a heterogeneous group of women with different chromosomal abnormalities, including 45,X0 monosomy (approx. two-thirds of cases), mosaicism (approx. one-third of cases), and structural abnormalities of the X chromosome (approx. one-third of cases). 1 Typical is a progressive gonadal dysgenesis with strongly reduced follicular reserve and development of premature ovarian insufficiency. Reviews on fertility protection in women with Turner syndrome have been published. 2-4 While the reviews by Grynberg et al and Schleedoorn et al described the available studies regarding efficacy of fertility preservation procedures, Oktay et al developed practical recommendations primarily based on the individual ovarian reserve using laboratory parameters (eg serum concentration of anti-Müllerian hormone [AMH]) and the antral follicle count. 2-4 We would like to propose a different approach, which-in contrast to Oktay et al 3-is based on the primary differentiation of women with Turner syndrome with a monosomy vs a mosaic or a structural aberration and secondary differentiation according to AMH concentration and the health risk of later pregnancy. We are convinced that our recommendation better reflects the complexity of fertility preservation in women presenting with

The challenge of defining predictive parameters for fertility preservation counseling in young females with Turner syndrome

“…drome (TS) by Rodriguez-Wallberg and Landin-Wilhelmsen were published. 1,2 We agree with the authors of both articles that FP counseling in TS patients is challenging because the decision to perform FP depends on multiple factors and not just on the ovarian reserve.…”

“…Furthermore, AMH levels measured at different time points can vary considerably in the same patient, due to biological variability and inter-test variability of AMH assays.Therefore, adequate interpretation of AMH levels in this group is difficult.FP counseling in young TS patients is challenging and reliable predictive parameters are required to optimize this process. AMH should be interpreted with caution, due to its known limitations.FU N D I N G I N FO R M ATI O NMerck Serono B.V; Goodlife; Ferring Sapthami Nadesapillai1…”

The complexity of fertility preservation for women with Turner syndrome and the potential risks of pregnancy and cardiovascular complications

“…It is hence of utmost importance to include counseling on reproductive issues when a Turner diagnosis is confirmed. In this issue of AOGS , Nawroth et al highlight the complexity of reproductive issues in this specific patient group and discuss recommendations for fertility preservation in women and girls with Turner syndrome 2 …”

“…Hence, genotype cannot be used for cardiovascular risk evaluation. It is gratefully acknowledged that Nawroth et al emphasize the importance of taking into account the health of the woman in pregnancy planning 2 . However, the categorical separation of monosomy and mosaicism as predictors of cardiovascular risk is not useful.…”

The decision-making process regarding ovarian tissue cryopreservation in girls with Turner syndrome by patients, parents, and healthcare providers: a mixed-methods study

“…Although OTC is considered experimental for girls with TS (8, [17][18][19], this fertility preservation technique could be an option for prepubescent girls with TS (1,7,20). However, healthcare providers and scientists are still reluctant to offer OTC to girls with TS, since it requires an invasive surgical procedure without clear predictors of whether primordial follicles will actually be found (9,15).…”