RESUMO
This case report focuses on a 33-year-old male patient with a history of infertility, characterized by severe micro-oligo-asthenospermia. Subsequent analysis revealed the presence of multi-headed and multi-flagellated spermatozoa, indicating a potential case of macrocephalic spermatozoa syndrome linked to a mutation in the AURKC gene. Genetic testing confirmed the presence of a pathogenic mutation, c.144delC, in a homozygous state in the AURKC gene. The AURKC gene is known to play a vital role in meiosis during sperm production, and its mutation can lead to abnormalities in sperm morphology and function, resulting in conditions like macrozoospermia and male infertility. Additionally, the patient was diagnosed with a grade III varicocele on the left testicle, which further contributed to his infertility. Varicoceles are associated with decreased sperm production and quality, making them one of the common reversible causes of male infertility. This case highlights the significance of comprehensive diagnostic approaches, including spermogram, ultrasonography, and genetic testing, in managing male infertility cases. It also emphasizes the intricate interplay between genetic mutations and physical conditions in the manifestation of male infertility. Further research is warranted to elucidate the mechanisms underlying AURKC-related sperm abnormalities and to develop effective therapeutic interventions. Moreover, a deeper understanding of such genetic factors may aid in the development of genetic counseling strategies for couples experiencing infertility.
