克氏综合征的不孕问题：从病因到治疗。

Infertility considerations in klinefelter syndrome: From origin to management.

机构信息

Department of Urology, Wake Forest University School of Medicine, Winston-Salem, NC, USA; Wake Forest Institute for Regenerative Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

出版信息

Best Pract Res Clin Endocrinol Metab. 2020 Dec;34(6):101480. doi: 10.1016/j.beem.2020.101480. Epub 2020 Dec 15.

DOI:10.1016/j.beem.2020.101480

PMID:33358481

Abstract

Klinefelter syndrome (KS) is defined as the presence of one or more extra "X" chromosome in a male patient. It affects approximately 1 in 600 newborn males and the most common chromosomal abnormality, leading to male hypogonadism and infertility. There is a lack of data supporting best practices for KS patients' care. In this paper we review controversial issues in KS research ranging from mechanisms of variation in KS phenotype to abnormalities resulting in reduced sperm production to successful sperm retrieval disparities after testicular sperm extraction (TESE). Translation to live birth and offspring health is also examined. Finally, medical therapies used to optimize the hormonal status and chances of fertility in KS patients are reviewed. We will also discuss the experimental spermatogonial stem cell (SSC) treatments, which are considered the future for TESE negative patients.

摘要

克莱恩费尔特综合征（KS）是指男性患者存在一条或多条额外的“X”染色体。它影响大约每 600 名新生男婴中的 1 名，是最常见的染色体异常，导致男性性腺功能减退和不育。目前缺乏支持 KS 患者护理最佳实践的数据。在本文中，我们回顾了 KS 研究中的一些有争议的问题，从 KS 表型变异的机制到导致精子生成减少的异常，再到睾丸精子提取（TESE）后成功的精子获取差异。对活产和后代健康的翻译也进行了研究。最后，我们还讨论了用于优化 KS 患者激素状态和生育机会的医学治疗方法。我们还将讨论实验性精原干细胞（SSC）治疗方法，这被认为是 TESE 阴性患者的未来。