Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Modena, Italy.
Clinica Eugin Modena, Modena, Italy.
J Assist Reprod Genet. 2021 Apr;38(4):759-777. doi: 10.1007/s10815-021-02067-7. Epub 2021 Jan 25.
The current review aims to summarize the data available concerning the applicability of fertility preservation techniques to genetic conditions at risk of premature ovarian insufficiency (POI).
A literature review through the PubMed Database was carried out.
About 10% of cases of POI is related to genetic diseases. The most frequent conditions associated with POI are Turner syndrome and fragile X pre-mutation; mutation of BRCA 1-2 genes and several other mutations and genetic syndromes have recently been highlighted, although they rarely occur. If a diagnosis is issued before POI onset, counseling on currently available fertility preservation techniques is advisable. In case of spontaneous menarche (this can occur variably depending on the mutation) established techniques like embryo or oocyte cryopreservation can be proposed, even if, in some cases, their effectiveness may be reduced by ovarian alterations connected to the mutation. Ovarian tissue cryopreservation has recently been defined as an established medical procedure for fertility preservation in young cancer patients and may be an option for prepubertal patients. However, it is still experimental in special populations with genetic diseases causing POI. New innovative experimental techniques, like in vitro maturation of immature oocytes (IVM) and vitro activation (IVA) of immature follicles on ovarian tissue, have shown limited but encouraging data and they will be probably available in the near future. For a correct risk-benefit evaluation, the following aspects should be considered: actual knowledge about the pathology-specific efficacy of the various techniques, the average age of onset of POI, the possible risks associated with the procedure in relation to the underlying pathology, the probability of spontaneous conception, as well as the health implications of a possible future pregnancy..
Fertility preservation techniques represent a crucial opportunity for patients with genetic risk of POI. Early diagnosis increases the chances to apply these techniques. No specific recommendations concerning fertility preservation for each genetic pathology are available, and clinicians should first counsel the patient and her relatives about known risks and benefits of the available techniques, both those established and those considered as experimental.
本综述旨在总结与卵巢早衰（POI）风险相关的遗传疾病适用的生育力保存技术的数据。
通过 PubMed 数据库进行文献回顾。
约 10%的 POI 病例与遗传疾病有关。与 POI 相关的最常见疾病是特纳综合征和脆性 X 前突变；BRCA 1-2 基因突变以及其他一些突变和遗传综合征最近也被强调，但它们很少发生。如果在 POI 发病前做出诊断，建议对目前可用的生育力保存技术进行咨询。对于自发性初潮（这可能因突变而异），可以提出胚胎或卵母细胞冷冻保存等已建立的技术，尽管在某些情况下，由于与突变相关的卵巢改变，其有效性可能会降低。卵巢组织冷冻保存最近被定义为年轻癌症患者生育力保存的既定医疗程序，对于青春期前的患者可能是一种选择。然而，对于导致 POI 的遗传疾病的特殊人群，它仍然是实验性的。新的创新实验技术，如不成熟卵母细胞的体外成熟（IVM）和卵巢组织上不成熟卵泡的体外激活（IVA），已经显示出有限但令人鼓舞的数据，并且它们可能在不久的将来可用。为了进行正确的风险效益评估，应考虑以下方面：对各种技术特定于病理学的疗效的实际了解、POI 发病的平均年龄、与潜在病理学相关的程序相关的可能风险、自然受孕的可能性，以及未来可能怀孕的健康影响。
生育力保存技术为具有 POI 遗传风险的患者提供了一个重要机会。早期诊断增加了应用这些技术的机会。对于每种遗传病理学，没有关于生育力保存的具体建议，临床医生应首先向患者及其亲属咨询已知的风险和可用技术的益处，包括已建立的和被认为是实验性的技术。
