Section of Endocrinology and Investigative Medicine, Imperial College London, UK.
Department of Urology, Charing Cross Hospital, London, UK.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e442-e459. doi: 10.1210/clinem/dgaa781.
Male infertility is defined as the inability to conceive following 1 year of regular unprotected intercourse. It is the causative factor in 50% of couples and a leading indication for assisted reproductive techniques (ART). Testicular failure is the most common cause of male infertility, yet the least studied to date.
The review is an evidence-based summary of male infertility due to testicular failure with a focus on etiology, clinical assessment, and current management approaches. PubMed-searched articles and relevant clinical guidelines were reviewed in detail.
EVIDENCE SYNTHESIS/RESULTS: Spermatogenesis is under multiple levels of regulation and novel molecular diagnostic tests of sperm function (reactive oxidative species and DNA fragmentation) have since been developed, and albeit currently remain as research tools. Several genetic, environmental, and lifestyle factors provoking testicular failure have been elucidated during the last decade; nevertheless, 40% of cases are idiopathic, with novel monogenic genes linked in the etiopathogenesis. Microsurgical testicular sperm extraction (micro-TESE) and hormonal stimulation with gonadotropins, selective estrogen receptor modulators, and aromatase inhibitors are recently developed therapeutic approaches for men with the most severe form of testicular failure, nonobstructive azoospermia. However, high-quality clinical trials data is currently lacking.
Male infertility due to testicular failure has traditionally been viewed as unmodifiable. In the absence of effective pharmacological therapies, delivery of lifestyle advice is a potentially important treatment option. Future research efforts are needed to determine unidentified factors causative in "idiopathic" male infertility and long-term follow-up studies of babies conceived through ART.
男性不育是指在规律无保护性生活 1 年后仍无法受孕。它是导致 50%夫妇不孕的原因，也是辅助生殖技术（ART）的主要适应证。睾丸衰竭是男性不育的最常见原因，但迄今为止研究最少。
本文是一篇基于证据的睾丸衰竭导致男性不育的综述，重点介绍了病因、临床评估和当前的治疗方法。详细回顾了 PubMed 检索的文章和相关的临床指南。
证据综合/结果：精子发生受到多种水平的调控，新的精子功能的分子诊断测试（活性氧和 DNA 碎片化）已经开发出来，尽管目前仍作为研究工具。在过去十年中，已经阐明了几种导致睾丸衰竭的遗传、环境和生活方式因素；然而，仍有 40%的病例是特发性的，新的单基因与发病机制有关。对于最严重形式的睾丸衰竭（非梗阻性无精子症）的男性，最近开发了显微睾丸精子提取（micro-TESE）和激素刺激治疗方法，包括促性腺激素、选择性雌激素受体调节剂和芳香化酶抑制剂。然而，目前缺乏高质量的临床试验数据。
由于睾丸衰竭导致的男性不育传统上被认为是不可改变的。在缺乏有效药物治疗的情况下，提供生活方式建议可能是一种重要的潜在治疗选择。需要进一步研究来确定“特发性”男性不育的未知原因，并对通过 ART 受孕的婴儿进行长期随访研究。
