BACKGROUND Girls with Turner syndrome (TS) lack a partial or complete sex chromosome, which causes an accelerated decline of their ovarian reserve. Girls have to deal with several dilemmas related to their fertility, while only a limited number of them are referred to a fertility specialist and counselled about options of family planning on time. OBJECTIVE AND RATIONALE This scoping review provides an update of the literature on fertility in girls with TS throughout their lifespan and aims to propose a clinical practice guideline on fertility in TS. SEARCH METHODS Databases of PubMed, Embase, and Web of science were searched using the following key terms: Turner syndrome, fertility, puberty, pregnancy, sex-hormones, karyotype, fertility preservation, assisted reproductive techniques, and counselling, alongside relevant subject headings and synonymous terms. English language articles published since 2007 were critically reviewed. Pregnancies after using donated oocytes and data about girls with TS with Y-chromosomal content were excluded. OUTCOMES This search identified 1269 studies of which 120 were extracted for the review. The prevalence of natural conception ranged from 15% to 48% in women with 45,X/46,XX, 1% to 3% in women with 45,X, and 4% to 9% in women with other TS karyotypes. When assessing a girl’s fertility potential, it was crucial to determine the karyotype in two cell lines, because hidden mosaicism may exist. In addition to karyotype, assessment of anti-Müllerian hormone (AMH) played a significant role in estimating ovarian function. Girls with AMH above the detection limit were most likely to experience spontaneous thelarche, menarche, and ongoing ovarian function during the reproductive lifespan. Fertility preservation became more routine practice: vitrification of oocytes was reported in 58 girls with TS and a median of five oocytes were preserved per stimulation. Ovarian tissue cryopreservation has demonstrated the presence of follicles in approximately 30% of girls with TS, mostly in girls with mosaic-TS, spontaneous puberty, and AMH above the detection limit. Although girls and their parents appreciated receiving counselling on fertility in TS, only one in ten girls with TS received specialized counselling. Unfamiliarity with fertility preservation techniques or uncertainties regarding the eligibility of a girl for fertility preservation constituted barriers for healthcare professionals when discussing fertility with girls with TS. WIDER IMPLICATIONS There currently is a high demand for fertility preservation techniques in girls with TS. A reliable prognostic model to determine which girls with TS might benefit from fertility preservation is lacking. Only a minority of these girls received comprehensive fertility counselling on the full spectrum of fertility, including uncertainties of fertility preservation, pregnancy risks, and alternatives, such as adoption. Fertility preservation could be a viable option for girls with TS. However, the question remains whether enough oocytes can be obtained for a realistic prospect of a live birth. It is important that girls and parents are empowered with the necessary information to make a well-informed decision.

中文翻译：

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驾驭 Turner 综合征女孩一生中的生育困境——范围综述


背景 患有特纳综合征 （TS） 的女孩缺乏部分或完整的性染色体，这会导致她们的卵巢储备加速下降。女孩必须应对与生育有关的几个困境，而其中只有少数女孩被转介给生育专家，并就按时计划生育的选择提供咨询。客观和基本原理 本范围综述提供了 TS 女孩一生中生育能力的文献更新，旨在提出 TS 生育能力的临床实践指南。检索方法 使用以下关键术语检索 PubMed、Embase 和 Web of science 的数据库：Turner 综合征、生育力、青春期、怀孕、性激素、核型、生育力保存、辅助生殖技术和咨询，以及相关主题词和同义词。对 2007 年以来发表的英语文章进行了严格审查。使用捐赠的卵母细胞后的妊娠和具有 Y 染色体含量的 TS 女孩的数据被排除在外。结果 本检索确定了 1269 项研究，其中 120 项被提取用于本综述。自然受孕的患病率在 45，X/46，XX 女性中为 15% 至 48%，在 45，X 女性中为 1% 至 3%，在患有其他 TS 核型的女性中为 4% 至 9%。在评估女孩的生育潜力时，确定两种细胞系的核型至关重要，因为可能存在隐藏的嵌合体。除核型外，抗苗勒管激素 （AMH） 的评估在估计卵巢功能中起着重要作用。AMH 高于检测限的女孩最有可能在生殖寿命期间经历自发性胎膜、月经初潮和持续的卵巢功能。 保留生育能力成为更常规的做法：据报道，58 名 TS 女孩的卵母细胞玻璃化，每次刺激保留的卵母细胞中位数为 5 个。卵巢组织冷冻保存表明，大约 30% 的 TS 女孩存在卵泡，主要是马赛克-TS、自发性青春期和 AMH 高于检测限的女孩。尽管女孩和她们的父母喜欢接受 TS 生育咨询，但只有十分之一的 TS 女孩接受了专门的咨询。不熟悉生育力保存技术或不确定女孩是否有资格保留生育力是医疗保健专业人员在与 TS 女孩讨论生育能力时的障碍。更广泛的影响 目前，患有 TS 的女孩对保留生育能力的技术有很高的需求。缺乏可靠的预后模型来确定哪些 TS 女孩可能从保留生育能力中受益。这些女孩中只有少数接受了关于所有生育能力的全面生育咨询，包括生育力保存的不确定性、怀孕风险和替代方法，如收养。保留生育能力可能是患有 TS 的女孩的可行选择。然而，问题仍然存在，是否可以获得足够的卵母细胞以实现活产的现实前景。重要的是，女孩和父母有权获得必要的信息以做出明智的决定。