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Turner syndrome

内分泌

关键词内分泌 疾病 染色体异常

词汇介绍

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解析

Turner   英 /'tɜːnə/   美 /'tɝnɚ/

释    义   n. 特纳(姓氏)

例    句   Turner inherited the right to fish at this spot from his father. 特纳从父亲那里继承了在这个地点捕鱼的权利。

 

Syndrome   英 /ˈsɪndrəʊm/   美 /ˈsɪndroʊm/

释    义   n. [临床] 综合症状;并发症状;校验子;并发位

例    句   Women complain about premenstrual syndrome, but I think of it as the only time of the month that I can be myself. 女人会抱怨经前期综合症,但是我认为这是一个月中我唯一可以做回我自己的日子。

概述

当X染色体(性染色体)之一缺失或部分缺失时,会导致特纳综合症(仅影响女性)。特纳综合征(TS)可引起多种医学和发育问题,包括身高矮,卵巢发育异常和心脏缺陷。特纳综合征可以在出生前(产前),婴儿期或儿童早期诊断出来。有时,具有特纳综合征症状和体征的女性中,可能推迟到成年或成年后才诊断出来。患有特纳氏综合症的女孩和妇女需要进行定期检查和适当照顾,这些可以帮助大多数女孩和妇女过上健康、独立的生活。病理机制大多数人天生就有两个性染色体。男孩从母亲那里继承X染色体,从父亲那里继承Y染色体。女孩从父母那

Fertility preservation in Turner Syndrome: karyotype doesn’t predict ovarian response to stimulation复制标题

特纳综合征的生育力保存: 核型不能预测卵巢对刺激的反应

发表时间:2019-08-17

影响因子:2.9

作者: Julia Vergier

期刊:Clin Endocrinol

Turner syndrome (TS) is the most common female sex chromosome abnormality which affects 1/2500 newborn girls. Integrity of the X chromosome long arm is essential for fertility. Natural history of TS is oogenesis abnormalities and accelerated fetal germ cells apoptosis. There is a wide spectrum of phenotypes depending on the primordial follicles pool left: about 30% of TS girls have some pubertal development, 10% -20% undergo menarche, and 2 -8% go through spontaneous pregnancy. Although genotype - phenotype correlation is not completely understood, mosaic TS women seem to have a milder phenotype with less impaired reproductive function compared to those with 45, X monosomy: they are more likely to have spontaneous puberty, normal levels of gonadotropins or sex steroids, and follicles in ovarian biopsies. Follicle density has also been negatively correlated with girl age and serum levels of FSH. Recent improvements in reproductive medicine offer the opportunity of fertility preservation (FP) to women with diminished ovarian reserve (DOR) before premature ovarian failure (POF). Different techniques have been suggested over the past decades, such as ovarian cortex cryopreservation and oocyte cryopreservation after vitrification for post - pubertal girls. FP for TS women has become a contested matter with pros and cons supported by different teams. There are currently no adopted recommendations, and these reproductive technologies raise new dilemmas and ethical concerns for physicians. Some previous works report controlled ovarian stimulation (COS) for TS women. The objective of our study was to report our experience.

译文

特纳综合征(TS)是最常见的女性性染色体异常,会影响1/2500名新生女婴。 X染色体长臂的完整性对于生育至关重要。 TS的自然病史是卵发生异常和胎儿生殖细胞凋亡加速。根据原始卵泡池的种类,存在广泛的表型:大约30%的TS女孩具有青春期发育,10%-20%的女性初潮,2 -8%的女性自然怀孕。尽管尚未完全了解基因型与表型的相关性,但与45例X单体性相比,镶嵌TS妇女似乎具有较轻的表型,生殖功能受损较少:她们更可能具有自发性青春期,正常水平的促性腺激素或性类固醇,和卵巢活检中的卵泡。卵泡密度也与女孩年龄和FSH血清水平呈负相关。生殖医学的最新进展为卵巢早衰(POF)前卵巢储备减少(DOR)的女性提供了生育保护(FP)的机会。在过去的几十年中,已经提出了不同的技术,例如,青春期后女孩的卵巢皮质冷冻保存和玻璃化后卵母细胞冷冻保存。面向TS妇女的FP已成为一个有争议的问题,在不同团队的支持下,它是有利有弊。目前尚无采纳的建议,这些生殖技术为医师带来了新的困境和伦理问题。先前的一些研究报道了TS妇女的受控卵巢刺激(COS)。我们研究的目的是报告我们的经验。