Purpose

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).

Methods

A literature review through the PubMed Database was carried out.

Results

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..

Conclusions

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.

中文翻译：

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为导致卵巢早衰 (POI) 的遗传疾病保留生育能力

目的

目前的审查旨在总结有关生育力保存技术对卵巢早衰（POI）风险遗传条件的适用性的可用数据。

方法

通过 PubMed 数据库进行了文献综述。

结果

大约 10% 的 POI 病例与遗传疾病有关。与 POI 相关的最常见病症是 Turner 综合征和脆性 X 前突变；BRCA 1-2 基因突变和其他几种突变和遗传综合征最近被强调，尽管它们很少发生。如果在 POI 发作之前做出诊断，建议就目前可用的生育力保存技术进行咨询。在自发初潮的情况下（这可能因突变而发生变化），可以提出胚胎或卵母细胞冷冻保存等成熟技术，即使在某些情况下，与突变相关的卵巢改变可能会降低其有效性。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，可能是青春期前患者的一种选择。然而，它仍在具有导致 POI 的遗传疾病的特殊人群中进行实验。新的创新实验技术，如未成熟卵母细胞的体外成熟 (IVM) 和卵巢组织上未成熟卵泡的体外激活 (IVA)，已显示有限但令人鼓舞的数据，它们可能在不久的将来可用。对于正确的风险收益评估，应考虑以下方面：关于各种技术的病理特异性疗效的实际知识、POI 的平均发病年龄、与潜在病理相关的手术相关的可能风险、

结论

对于有 POI 遗传风险的患者来说，生育力保存技术是一个重要的机会。早期诊断增加了应用这些技术的机会。没有关于每种遗传病理学保留生育能力的具体建议，临床医生应首先向患者及其亲属咨询现有技术的已知风险和益处，包括已建立的和被认为是实验性的技术。