Analysis of copy number variations of the autosomal genome in 156 patients with azoospermia

BACKGROUND: To analyze the relationship between copy number variations (CNVs) and azoospermia by analyzing the chromosome gene copy data of 156 patients with azoospermia. METHODS: A total of 156 azoospermia patients who were treated in our hospital from October 2018 to May 2021 were selected. Informed consent was signed, and semen analysis, testicular biopsy, and chromosome gene detection were carried out. CNVs were analyzed by next-generation sequencing (NGS) detection, and the obtained results were statistically analyzed. RESULTS: Among the 156 azoospermia patients, 81 cases had sperm in the testicular puncture and 75 cases had no sperm in the testicular puncture. There was a significant difference in CNV detection between the 2 groups (P<0.05). Detailed analysis of CNVs on chromosomes 2, 3, 5, 10, and 11 yielded the following results: 132 genes were found in autosomal chromosomes with CNVs and the percentage was >5%, including 8 deletions and 124 repetitions; CNVs on chromosome 2 found 11 genes, of which 3 were deleted and 8 were duplicated; 17 genes were found in CNVs on chromosome 3, including 3 deletions and 14 duplications; 12 genes were found in CNVs on chromosome 5, of which 2 were deleted and 10 were repeated; 72 genes were found in CNVs on chromosome 10, all of which were duplicates; CNVs on chromosome 11 found 20 genes, all of which were duplicates. CONCLUSIONS: The chromosome changes caused by CNVs in structure or function may affect the component of spermatogenesis, interfere with mitosis and/or meiosis in the process of spermatogenesis, and lead to azoospermia.