Chromosome 17 translocation affects sperm morphology: Two case studies and literature review

We present two cases of infertile males with teratozoospermia stemming from chromosome 17 translocation. The patients present karyotypes that have not been previously reported. Genes located on breakpoints (17p11.2, 9q31, and 11p15) were analysed to find the probable mechanism affecting sperm morphology. Our results suggest that ALKBH5, TOP3A, and LLGL1 interactions may be an underlying cause of abnormal sperm head morphology. Translocation of chromosome 17 occurred in conjunction with chromosome 9 and chromosome 11 translocation in the two cases, resulting in oligozoospermia and asthenozoospermia, respectively. These abnormal phenotypes may involve meiosis- and motility-related genes such as LDHC, DNHD1, UBQLN3, and NUP98. Translocation is thus a risk factor for sperm morphological abnormalities and motility deficiency. The interaction network of 22 genes on breakpoints suggests that they contribute to spermatogenesis as a group. In conclusion, this study highlighted the importance of investigating genes linked to sperm morphology, together with chromosome 17 translocation and reproductive risks. For patients interested in screening before a future pregnancy, we recommend preimplantation genetic diagnosis to reduce the risk of karyotypically unbalanced foetuses and birth defects.

Automated summary

This study presents two cases of infertile males with teratozoospermia resulting from chromosome 17 translocation. The patients have unique karyotypes that have not been reported previously. Analysis of genes located on breakpoints suggests that interactions involving ALKBH5, TOP3A, and LLGL1 may contribute to abnormal sperm head morphology. Chromosome 17 translocation occurs in conjunction with chromosome 9 and chromosome 11 translocations, leading to oligozoospermia and asthenozoospermia, respectively. The abnormal phenotypes observed in these cases may be related to genes involved in meiosis and sperm motility. The study highlights the importance of investigating genes associated with sperm morphology, as well as the reproductive risks associated with chromosome 17 translocation. For individuals interested in pre-pregnancy screening, preimplantation genetic diagnosis is recommended to minimize the risk of karyotypically unbalanced fetuses and birth defects.