Investigation of sub-chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis

Abstract

Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications). This study aimed to investigate aetiology in patients with idiopathic azoospermia by using the chromosomal microarray method to detect possible sub chromosomal changes. Twenty-eight patients (with a mean age of 30.4 +/- 9 years) that had been diagnosed with idiopathic azoospermia between January 2019 and December 2020 were included in the study. Genomic DNA isolated from the blood of patients were amplified using polymerase chain reaction and was subjected to chromosomal microarray analysis. A total of six microdeletions were identified as clinically significant: one pathogenic copy number variation (CNV), four likely pathogenic CNVs, and one CNV of unknown clinical significance. However, clinical findings indicated that these microdeletions, with variable expression levels, may affect the spermatogenesis process and induce azoospermia. Future investigations regarding the functional effect of these deletions may contribute to our understanding of azoospermia aetiology.