Purpose Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % largeheaded multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation causing macrozoospermia in North African patients. The aim of this study was to evaluate the prevalence of this condition in Tunisia and estimate the frequency of c.144delC mutation among infertile and control populations. Methods Sequencing c.144delC mutation was carried out in 33 macrozoospermic patients among 6652 infertile men. Minisequencing of exon3 was performed in 250 unrelated control individuals to estimate the frequency of c.144delC heterozygosity. Results More than 80 % of macrozoospermic patients were c.144delC homozygous. The prevalence of homozygous c.144delC was 0.4 % among infertile men (27/6652). The frequency of heterozygosity was 0.4 % among controls (1/250). Surprisingly, it is five times less common than established in the general population of North Africa (2 %) or in the Moroccan population (1.7 %).Conclusions We show that this mutation is relatively less frequent in the Tunisian population than in other Maghrebian populations. The occurrence of homozygous mutation among infertile men can be attributed to the high rate of consanguinity and its impact on the expression of this autosomal recessive male infertility disorder rather than a high frequency of heterozygous carriers among the general population. This highlights the importance of the molecular analysis of AURKC mutations for infertile men with high percentage of largeheaded multiflagellar spermatozoa in order to limit unnecessary in vitro fertilization attempts for them.
The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2‐mutated patients (n = 6) and SPATA16‐mutated patients (n = 2). Results for these two groups were also compared to a group of fertile men (n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18. Sperm DNA fragmentation was evaluated by TUNEL assay. Sanger sequencing was performed for mutations screening of DPY19L2 and SPATA16 genes. Sperm analysis revealed a classic phenotype of total globozoospermia in DPY19L2‐mutated group and a particular phenotype characterised by a predominance of double/multiple round‐headed (39.00 ± 4.2%) and multi‐tailed spermatozoa (26.00 ± 16.97%) in SPATA16‐mutated group. FISH analysis showed a significantly higher aneuploidy rate in globozoospermic patients compared to controls (p < 0.05), and a higher rate was observed in SPATA16‐mutated group compared to DPY19L2‐mutated group (p < 0.05). DNA fragmentation index was significantly higher in globozoospermic men compared to controls (p < 0.001), and there is no statistically significant difference between the two globozoospermic groups. We showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round‐headed and multi‐flagella and a higher sperm aneuploidy rate than in case of DPY19L2‐defects in classic globozoospermia.
Various nuclear sperm alterations are reported in patients with syndromic teratozoospermia; however, this has not been clearly identified yet in total polymorphic teratozoospermia. The aim of this study was to analyse sperm aneuploidy, DNA integrity and chromatin packaging in 45 infertile patients with total polymorphic teratozoospermia, and to compare obtained results with those collected from 25 fertile men. For 14 patients, the impact of nuclear sperm abnormalities on intracytoplasmic sperm injection (ICSI) outcomes was analysed. Sperm chromatin condensation was evaluated using aniline blue staining, DNA fragmentation by TUNEL assay and chromosome abnormalities by FISH. The mean DNA fragmentation index was significantly higher in patients compared to controls, weakly and positively correlated to acrosome defects (r = 0.3; p = 0.04) and positively and moderately correlated to microcephalic heads (r = 0.5; p = 0.027). The aniline blue‐reacted spermatozoa rate was also high in comparison with controls, moderately and negatively correlated to progressive motility (r = −0.6; p = 0.014). Total aneuploidy rate was considerably higher in our patients. A positive and moderate correlation was found between disomy Y rate and acrosome abnormalities (r = 0.5; p = 0.048). These patients had an impaired sperm nuclear quality, which will affect the results in ICSI. Therefore, analysis of sperm chromatin condensation, DNA integrity and aneuploidy in such cases is very useful before ART.
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