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目前对卵巢早衰(POI)病因、症状和治疗选择的认识。

Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).

机构信息

Rose Ladies Clinic, Tokyo, Japan.

Department of Obstetrics and Gynecology, St. Marianna University School of Medicine, Kanagawa, Japan.

出版信息

Front Endocrinol (Lausanne). 2021 Feb 25;12:626924. doi: 10.3389/fendo.2021.626924. eCollection 2021.

Abstract

Premature ovarian insufficiency (POI) occurs in at least 1% of all women and causes life-long health problems and psychological stress. Infertility caused by POI used to be considered absolute, with infertility treatment having little or no value. Generally, it has been thought that medicine can provide little service to these patients. The etiology of POI has been found to be genetic, chromosomal, and autoimmune. In addition, the increasing numbers of cancer survivors are candidates for iatrogenic POI, along with patients who have undergone ovarian surgery, especially laparoscopic surgery. Over 50 genes are known to be causally related to POI, and the disease course of some cases has been clarified, but in most cases, the genetic background remains unexplained, suggesting that more genes associated with the etiology of POI need to be discovered. Thus, in most cases, the genetic background of POI has not been clarified. Monosomy X is well known to manifest as Turner's syndrome and is associated with primary amenorrhea, but recent studies have shown that some women with numerical abnormalities of the X chromosome can have spontaneous menstruation up to their twenties and thirties, and some even conceive. Hormone replacement therapy (HRT) is recommended for women with POI from many perspectives. It alleviates vasomotor and genitourinary symptoms and prevents bone loss and cardiovascular disease. POI has been reported to reduce quality of life and life expectancy, and HRT may help improve both. Most of the problems that may occur with HRT in postmenopausal women do not apply to women with POI; thus, in POI, HRT should be considered physiological replacement of estrogen (+progesterone). This review describes some new approaches to infertility treatment in POI patients that may lead to new treatments for POI, along with the development of more sensitive markers of secondary/preantral follicles and genetic diagnosis.

摘要

卵巢早衰(POI)至少发生在 1%的所有女性中,并导致终生健康问题和心理压力。POI 引起的不孕过去被认为是绝对的,不孕治疗几乎没有或没有价值。一般来说,人们认为医学对这些患者几乎没有什么帮助。POI 的病因已被发现与遗传、染色体和自身免疫有关。此外,越来越多的癌症幸存者成为医源性 POI 的候选者,以及接受过卵巢手术的患者,尤其是腹腔镜手术。已知超过 50 个基因与 POI 有因果关系,一些病例的疾病过程已经阐明,但在大多数情况下,遗传背景仍未得到解释,这表明需要发现更多与 POI 病因相关的基因。因此,在大多数情况下,POI 的遗传背景尚未阐明。单体 X 众所周知表现为特纳综合征,与原发性闭经有关,但最近的研究表明,一些 X 染色体数目异常的女性可以自发地在二十多岁和三十多岁时有月经,甚至有些女性可以怀孕。从多个角度来看,POI 患者都推荐进行激素替代疗法(HRT)。它可以缓解血管舒缩和泌尿生殖系统症状,预防骨质流失和心血管疾病。POI 已被报道会降低生活质量和预期寿命,HRT 可能有助于改善这两者。绝经后妇女使用 HRT 可能出现的大多数问题不适用于 POI 患者;因此,在 POI 中,HRT 应被视为雌激素(+孕激素)的生理性替代。这篇综述描述了一些 POI 患者不孕治疗的新方法,这些方法可能为 POI 带来新的治疗方法,同时开发出更敏感的次级/窦前卵泡标志物和遗传诊断方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e771/7949002/6fb13a4efb11/fendo-12-626924-g001.jpg

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