Abstract:
Male infertility is a relatively common condition in our country. Multiple male etiological factors are what guides us to an epidemiological study of the various factors behavioral and environmental risk decreasing sperm parameters. the second part of this study aims is to achieve the molecular exploration of rare forms of male infertility related to monomorphic tératozoospermia (macrozoospermia and globozoospermia), determining the newly described mutations in genes AURORA KINASE C and DPY19L2 respectively and determining for the first time the frequency of these unusual anomalies in a population of Algerian origin.
This is a retrospective descriptive study of 404 patients intended by their doctor for infertility diagnosis and intended for an AMP. Epidemiological, clinical and laboratory parameters were recorded for each patient. 19 patients with OAT with rare severe morphological abnormalities (globozoospermia, macrozoospermia) were selected for DNA analysis. 7 exons of the AURKC gene were amplified looking for a mutation in one of
these exons and the MLPA technique was performed in search of a deletion of DPY19L2.
The frequency of patients with semen analysis and / or medical spermocytogramme was 83.3% with a predominance of sperm abnormality oligo-astheno-teratospermia (OAT).
This study shows a moderate effect of environmental factors and behavioral risk on sperm parameters. The exposure to heat and toxins appear to be the most detrimental factor for spermatogenesis. There was a significant decrease in the count exposed to high heat and /or toxic inhalations. Fourteen men and seven respectively showed a typical profile of macrozoospermia and globozoospermia. Molecular diagnosis of AURKC and DPY19L2 was performed for these patients. Eleven men with macrozoospermia had a homozygous
mutation AURKC (79%) indicating that mutations AURKC were identified in 2.7% of patients with abnormal semen analysis. All men with globozoospermia analyzed (n = 5) showed a homozygous deletion DPY19L2 or 1.2% of infertile men. This study confirmed the recurrence of two mutations AURKC and DPY19L2 deletion in Algerian infertile men.
We observed that macrozoospermia is 2-3 times more common than globozoospermia. Our results confirm that ICSI can not be effective for patients with AURKC homozygous mutation. This highlights the importance of molecular diagnostics of AURKC gene to limit unnecessary ICSI attempts.
