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原发性卵巢功能不全的最新进展。

An update on primary ovarian insufficiency.

机构信息

Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, 310006, China.

出版信息

Sci China Life Sci. 2012 Aug;55(8):677-86. doi: 10.1007/s11427-012-4355-2. Epub 2012 Aug 30.

DOI:10.1007/s11427-012-4355-2
PMID:22932883
Abstract

Primary ovarian insufficiency (POI) occurs in about 1% of female population under the age of 40, leading to reproductive problems, an earlier encounter with menopausal symptoms, and complicated diseases. There are three presumable mechanisms involved in the development of POI, namely apoptosis acceleration, follicular maturation blocking and premature follicle activation, through the following studied causes: (i) chromosomal abnormalities or gene mutations: mostly involve X chromosome, such as FMR1 premutation; more and more potentially causal genes have been screened recently; (ii) metabolic disorders such as classic galactosaemia and 17-OH deficiency; (iii) autoimmune mediated ovarian damage: observed alone or with some certain autoimmune disorders and syndromes; but the specificity and sensitivity of antibodies towards ovary are still questionable; (iv) iatrogenic: radiotherapy or chemotherapy used in cancer treatment, as well as pelvic surgery with potential threat to ovaries' blood supply can directly damage ovarian function; (v) virus infection such as HIV and mumps; (vi) toxins and other environmental/lifestyle factors: cigarette smoking, toxins (e.g., 4-vinylcyclohexene diepoxide), and other environmental factors are associated with the development of POI. The etiology of a majority of POI cases is not identified, and is believed to be multifactorial. Strategies to POI include hormone replacement and infertility treatment. Assisted conception with donated oocytes has been proven to achieve pregnancy in POI women. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation have been used to preserve ovarian reserve in women undergoing cancer treatments.

摘要

原发性卵巢功能不全(POI)发生在 40 岁以下女性人群中的约 1%,导致生殖问题、更早地出现更年期症状和复杂疾病。POI 的发展涉及三种可能的机制,即细胞凋亡加速、卵泡成熟阻滞和卵泡过早激活,其通过以下研究原因:(i)染色体异常或基因突变:主要涉及 X 染色体,如 FMR1 前突变;最近越来越多的潜在致病基因被筛选出来;(ii)代谢紊乱,如经典半乳糖血症和 17-OH 缺乏症;(iii)自身免疫介导的卵巢损伤:单独观察或与某些自身免疫性疾病和综合征有关;但针对卵巢的抗体的特异性和敏感性仍存在疑问;(iv)医源性:癌症治疗中使用的放疗或化疗,以及对卵巢血供有潜在威胁的盆腔手术,都可能直接损害卵巢功能;(v)病毒感染,如 HIV 和腮腺炎;(vi)毒素和其他环境/生活方式因素:吸烟、毒素(如 4-乙烯基环已烯二恶烷)和其他环境因素与 POI 的发生有关。大多数 POI 病例的病因尚未确定,被认为是多因素的。POI 的治疗策略包括激素替代和不孕治疗。用捐赠的卵子进行辅助受孕已被证明可使 POI 女性怀孕。胚胎冷冻、卵巢组织冷冻和卵母细胞冷冻已被用于在接受癌症治疗的女性中保存卵巢储备。

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