A substantial number of male infertility is caused by azoospermia. However, the underlying etiology and the molecular basis remain largely unknown. Through single-cell (sc)RNA sequencing, we had analyzed testis biopsy samples from two patients with obstructive azoospermia (OA) and nonobstructive azoospermia (NOA). We found only somatic cells in the NOA samples and explored the transcriptional changes in Sertoli cells in response to a loss of interactions with germ cells. Moreover, we observed a germ cell population discrepancy between an OA (postvasectomy) patient and a healthy individual. We confirmed this observation in a secondary study with two datasets at GSM3526588 and GSE124263 for detailed analysis wherein the regulatory mechanisms at the transcriptional level were identified. These findings thus provide valuable information on human spermatogenesis, and we also identified insightful information for further research on reproduction-related diseases.

相当一部分男性不育症是由无精子症引起的。然而，潜在的病因学和分子基础仍然很大程度上未知。通过单细胞 (sc)RNA 测序，我们分析了两名阻塞性无精子症 (OA) 和非阻塞性无精子症 (NOA) 患者的睾丸活检样本。我们在 NOA 样本中只发现了体细胞，并探索了支持细胞因与生殖细胞相互作用丧失而发生的转录变化。此外，我们观察到 OA（输精管切除术后）患者和健康个体之间的生殖细胞群存在差异。我们在一项二次研究中证实了这一观察结果，其中使用了 GSM3526588 和 GSE124263 的两个数据集进行详细分析，其中确定了转录水平的调控机制。因此，这些发现为人类精子发生提供了有价值的信息，我们还为生殖相关疾病的进一步研究提供了有见地的信息。