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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解决特纳综合征女孩一生中的生育困境——范围界定审查


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，这导致她们的卵巢储备加速下降。女孩必须应对与生育相关的一些困境，而只有少数女孩被转介给生育专家并及时就计划生育的选择提供咨询。目的和理由 本次范围界定综述提供了有关患有 TS 的女孩一生中生育能力的最新文献，旨在提出关于 TS 生育能力的临床实践指南。检索方法 使用以下关键词检索 PubMed、Embase 和 Web of science 数据库：特纳综合征、生育力、青春期、妊娠、性激素、核型、生育力保存、辅助生殖技术和咨询，以及相关主题标题和同义术语。自 2007 年以来发表的英文文章均受到严格审查。使用捐赠的卵母细胞后的怀孕以及患有 Y 染色体含量 TS 的女孩的数据被排除在外。结果 本次检索确定了 1269 项研究，其中提取了 120 项进行综述。 45,X/46,XX 女性的自然受孕率为 15% 至 48%，45,X 女性的自然受孕率为 1% 至 3%，其他 TS 核型女性的自然受孕率为 4% 至 9%。在评估女孩的生育潜力时，确定两个细胞系的核型至关重要，因为可能存在隐藏的嵌合体。除了核型之外，抗苗勒氏管激素（AMH）的评估在评估卵巢功能方面也发挥着重要作用。 AMH 高于检测限的女孩最有可能在生殖寿命期间经历自发乳房发育、初潮和持续的卵巢功能。 生育力保存变得更加常规：据报道，58 名患有 TS 的女孩的卵母细胞被玻璃化，每次刺激平均保存了 5 个卵母细胞。卵巢组织冷冻保存表明，约 30% 的 TS 女孩存在卵泡，其中大多数女孩患有马赛克-TS、自发性青春期和 AMH 高于检测限。尽管女孩及其父母很高兴接受有关 TS 生育问题的咨询，但只有十分之一的 TS 女孩接受了专门咨询。不熟悉生育力保存技术或对女孩是否有资格保留生育力存在不确定性，这给医疗保健专业人员在与患有 TS 的女孩讨论生育问题时构成了障碍。更广泛的影响 目前，患有 TS 的女孩对生育力保存技术的需求很高。目前缺乏可靠的预后模型来确定哪些患有 TS 的女孩可能受益于生育力保留。这些女孩中只有少数接受了全面的生育咨询，包括生育力保留的不确定性、怀孕风险以及收养等替代方案。对于患有 TS 的女孩来说，保留生育能力可能是一个可行的选择。然而，问题仍然是是否可以获得足够的卵母细胞来实现活产的现实前景。重要的是，让女孩和家长获得必要的信息，以便做出明智的决定。