Purpose

Patients with Klinefelter syndrome (KS) who receive assisted reproductive technology (ART) treatment often experience poor pregnancy rates due to decreased fertilization, cleavage, and implantation rates and even an increased miscarriage rate. Mounting evidence from recent studies has shown that various technological advances and approaches could facilitate the success of ART treatment for KS patients. In this review, we summarize the methods for guiding KS patients during ART and for developing optimal strategies for preserving fertility, improving pregnancy rate and live birth rate, and avoiding the birth of KS infants.

Methods

We searched PubMed and Google Scholar publications related to KS patients on topics of controlled ovarian stimulation protocols, sperm extraction, fertility preservation, gamete artificial activation, round spermatid injection (ROSI), and non-invasive prenatal screening (PGD) methods.

Results

This review outlines the different ovulation-inducing treatments for female partners according to the individual sperm status in the KS patient. We further summarize the methods of retrieving sperm, storing, and freezing rare sperm. We reviewed different methods of gamete artificial activation and discussed the feasibility of ROSI for sterile KS patients who absolutely lack sperm. The activation of eggs in the process of intracytoplasmic sperm injection and non-invasive PGD are urgently needed to prevent the birth of KS infants.

Conclusion

The integrated strategies will pave the way for the establishment of ART treatment approaches and improve the clinical outcome for KS patients.

中文翻译：

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Klinefelter 综合征的 ART 策略。

目的

接受辅助生殖技术 (ART) 治疗的 Klinefelter 综合征 (KS) 患者通常会因受精、卵裂和着床率降低，甚至流产率增加而导致妊娠率降低。最近的研究越来越多的证据表明，各种技术进步和方法可以促进 KS 患者 ART 治疗的成功。在这篇综述中，我们总结了在 ART 期间指导 KS 患者的方法，以及制定保持生育能力、提高妊娠率和活产率以及避免 KS 婴儿出生的最佳策略。

方法

我们搜索了与 KS 患者相关的 PubMed 和 Google Scholar 出版物，主题包括受控卵巢刺激方案、精子提取、生育力保存、配子人工激活、圆形精子细胞注射 (ROSI) 和无创产前筛查 (PGD) 方法。

结果

本综述根据 KS 患者的个体精子状态概述了针对女性伴侣的不同促排卵治疗。我们进一步总结了提取精子、储存和冷冻稀有精子的方法。我们回顾了配子人工激活的不同方法，并讨论了 ROSI 对绝对缺乏精子的不育 KS 患者的可行性。迫切需要卵胞浆内单精子注射和无创PGD过程中卵子的活化，以防止KS婴儿的诞生。

结论

综合策略将为建立 ART 治疗方法铺平道路，并改善 KS 患者的临床结果。