Department of Obstetrics and Gynecology, Infertility and IVF Unit, Chaim Sheba Medical Center (Tel-Hashomer), Ramat Gan, Israel.
Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.
J Assist Reprod Genet. 2020 Apr;37(4):849-854. doi: 10.1007/s10815-020-01701-0. Epub 2020 Feb 24.
While FMR1 premutation carriers (CGG 55-200) were shown to have reduced success with IVF treatment (lower oocyte yield), studies reporting on the association between the number of CGG repeats and patients' response to controlled ovarian hyperstimulation (COH) are inconsistent. In the present study, we aim to explore whether the number of CGG repeats in women with premutation in FMR1 gene, undergoing COH for IVF, correlates with COH variables and whether the number of AGG interruptions may function as a "protective factor" by improving the ovarian response to COH.
Retrospective study, in an academic IVF-PGD unit. Fifty-seven consecutive FMR1 premutation carriers who underwent 285 IVF treatment cycles were included. The numbers of CGG repeats and AGG interruptions were retrieved and correlated to the demographics and COH variables.
There were no significant association between the numbers of CGG or the AGG interruptions and the number of oocyte retrieved or the peak estradiol levels. The lack of association was also observed when including all the IVF treatment cycles or only the first or last IVF treatment cycle. Moreover, no associations were found between the number of CGG repeats or AGG interruptions and other COH variables, i.e., duration of stimulation, the total dose of gonadotropin used, or the number of top-quality embryos.
No associations were observed between the number of CGG repeats or AGG interruptions and any of the COH variables. Further studies are required to identify early biomarkers of POI to empower FMR1 premutation carriers with risk assessment tools to consider procedures such as fertility preservation.
尽管 FMR1 前突变携带者（CGG55-200）的体外受精（IVF）治疗成功率较低（卵母细胞产量较低），但关于 CGG 重复次数与患者对控制性卵巢过度刺激（COH）反应之间的关联的研究结果并不一致。本研究旨在探讨接受 IVF 治疗的 FMR1 基因前突变携带者的 COH 中 CGG 重复次数是否与 COH 变量相关，以及 AGG 中断的数量是否可以作为“保护因素”通过改善对 COH 的卵巢反应。
回顾性研究，在一家学术性的 IVF-PGD 单位进行。共纳入 57 例连续的 FMR1 前突变携带者，他们接受了 285 个 IVF 治疗周期。检索 CGG 重复次数和 AGG 中断的数量，并与人口统计学和 COH 变量相关联。
CGG 或 AGG 中断的数量与获取的卵母细胞数量或峰值雌二醇水平之间均无显著相关性。当包括所有 IVF 治疗周期或仅包括第一个或最后一个 IVF 治疗周期时，这种相关性也不明显。此外，CGG 重复次数或 AGG 中断的数量与其他 COH 变量（如刺激持续时间、使用的促性腺激素总剂量或优质胚胎数量）之间也没有相关性。
CGG 重复次数或 AGG 中断的数量与任何 COH 变量之间均无相关性。需要进一步的研究来确定 POI 的早期生物标志物，以便为 FMR1 前突变携带者提供风险评估工具，考虑进行生育力保存等程序。
