Nuclear sperm integrity and ICSI prognosis in Tunisian patients with MMAF syndrome (multiple morphological abnormalities of the sperm flagella)

References

• Amiri-Yekta, A., Coutton, C., Kherraf, Z. E., Karaouzène, T., Le Tanno, P., Sanati, M. H., Sabbaghian, M., Almadani, N., Sadighi Gilani, M. A., Hosseini, S. H., Bahrami, S., Daneshipour, A., Bini, M., Arnoult, C., Colombo, R., Gourabi, H., & Ray, P. F. (2016). Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. Human Reproduction, 31(12), 2872–2880. https://doi.org/10.1093/humrep/dew262
   PubMed Web of Science ®Google Scholar
• Auger, J., Eustache, F., & David, G. (2000). Standardisation de la classification morphologique des spermatozoïdes humains selon la méthode de David modifiée. Andrologie, 10(4), 358–373. https://doi.org/10.1007/BF03034491
   Google Scholar
• Baccetti, B., Collodel, G., Gambera, L., Moretti, E., Serafini, F., & Piomboni, P. (2005). Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath. Fertility and Sterility, 84(1), 123–129. https://doi.org/10.1016/j.fertnstert.2005.01.128
   PubMed Web of Science ®Google Scholar
• Ben Khelifa, M., Coutton, C., Zouari, R., Karaouzène, T., Rendu, J., Bidart, M., Yassine, S., Pierre, V., Delaroche, J., Hennebicq, S., Grunwald, D., Escalier, D., Pernet-Gallay, K., Jouk, P. S., Thierry-Mieg, N., Touré, A., Arnoult, C., & Ray, P. F. (2014). Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. American Journal of Human Genetics, 94(1), 95–104. https://doi.org/10.1016/j.ajhg.2013.11.017
   PubMed Web of Science ®Google Scholar
• Bernardini, L. M., Costa, M., Bottazzi, C., Gianaroli, L., Magli, M. C., Venturini, P. L., Francioso, R., Conte, N., & Ragni, N. (2004). Sperm aneuploidy and recurrent pregnancy loss. Reproductive Biomedicine Online, 9(3), 312–320. https://doi.org/10.1016/s1472-6483(10)62147-5
   PubMed Web of Science ®Google Scholar
• Bioforma. (2009). Exploration de la fonction de reproduction versant masculin. Cahier De Formation Biologie Médicale, 42, 1–222.
   Google Scholar
• Braham, A., Ghedir, H., Zidi, I., Sallem, A., Hajlaoui, A., Ajina, M., Saad, A., & Ibala-Romdhane, S. (2019). Nuclear sperm quality in total polymorphic teratozoospermia and its impact on intracytoplasmic sperm injection outcome. Andrologia, 51(5), e13252. https://doi.org/10.1111/and.13252
   PubMed Web of Science ®Google Scholar
• Brahem, S., Elghezal, H., Ghédir, H., Landolsi, H., Amara, A., Ibala, S., Gribaa, M., Saad, A., & Mehdi, M. (2011). Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. Urology, 78(6), 1313–1319. https://doi.org/10.1016/j.urology.2010.12.015
   PubMedGoogle Scholar
• Cohen-Bacrie, P., Belloc, S., Ménézo, Y. J., Clement, P., Hamidi, J., & Benkhalifa, M. (2009). Correlation between DNA damage and sperm parameters: a prospective study of 1,633 patients. Fertility and Sterility, 91(5), 1801–1805. https://doi.org/10.1016/j.fertnstert.2008.01.086
   PubMed Web of Science ®Google Scholar
• Elinati, E., Kuentz, P., Redin, C., Jaber, S., Vanden Meerschaut, F., Makarian, J., Koscinski, I., Nasr-Esfahani, M. H., Demirol, A., Gurgan, T., Louanjli, N., Iqbal, N., Bisharah, M., Pigeon, F. C., Gourabi, H., De Briel, D., Brugnon, F., Gitlin, S. A., Grillo, J.-M., … Viville, S. (2012). Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Human Molecular Genetics, 21(16), 3695–3702. https://doi.org/10.1093/hmg/dds200
   PubMed Web of Science ®Google Scholar
• Ferreux, L., Bourdon, M., Chargui, A., Schmitt, A., Stouvenel, L., Lorès, P., Ray, P., Lousqui, J., Pocate-Cheriet, K., Santulli, P., Dulioust, E., Toure, A., & Patrat, C. (2021). Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum. Human Reproduction (Oxford, England), 36(11), 2848–2860. https://doi.org/10.1093/humrep/deab200
   PubMed Web of Science ®Google Scholar
• Ghédir, H., Braham, A., Viville, S., Saad, A., & Ibala-Romdhane, S. (2019). Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. Andrologia, 51(6), e13277. https://doi.org/10.1111/and.13277
   PubMed Web of Science ®Google Scholar
• Ghedir, H., Mehri, A., Mehdi, M., Brahem, S., Saad, A., & Ibala-Romdhane, S. (2014). Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities. Journal of Assisted Reproduction and Genetics, 31(9), 1167–1174. https://doi.org/10.1007/s10815-014-0290-4
   PubMed Web of Science ®Google Scholar
• Hofmann, N., & Hilscher, B. (1991). Use of aniline blue to assess chromatin condensation in morphologically normal spermatozoa in normal and infertile men. Human Reproduction, 6(7), 979–982. https://doi.org/10.1093/oxfordjournals.humrep.a137472
   PubMed Web of Science ®Google Scholar
• Kim, H. S., Kang, M. J., Kim, S. A., Oh, S. K., Kim, H., Ku, S. Y., Kim, S. H., Moon, S. Y., & Choi, Y. M. (2013). The utility of sperm DNA damage assay using toluidine blue and aniline blue staining in routine semen analysis. Clinical and Experimental Reproductive Medicine, 40(1), 23–28. https://doi.org/10.5653/cerm.2013.40.1.23
   PubMedGoogle Scholar
• Krausz, C., & Chianese, C. (2014). Genetic testing and counselling for male infertility. Current Opinion in Endocrinology, Diabetes, and Obesity, 21(3), 244–250. https://doi.org/10.1097/MED.0000000000000058
   PubMedGoogle Scholar
• Liu, C., Tu, C., Wang, L., Wu, H., Houston, B. J., Mastrorosa, F. K., Zhang, W., Shen, Y., Wang, J., Tian, S., Meng, L., Cong, J., Yang, S., Jiang, Y., Tang, S., Zeng, Y., Lv, M., Lin, G., Li, J., … Zhang, F. (2021). Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. American Journal of Human Genetics, 108(2), 309–323. https://doi.org/10.1016/j.ajhg.2021.01.002
   PubMed Web of Science ®Google Scholar
• Liu, C., Lv, M., He, X., Zhu, Y., Amiri-Yekta, A., Li, W., Wu, H., Kherraf, Z. E., Liu, W., Zhang, J., Tan, Q., Tang, S., Zhu, Y. J., Zhong, Y., Li, C., Tian, S., Zhang, Z., Jin, L., Ray, P., Zhang, F., … Cao, Y. (2020). Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. Journal of Medical Genetics, 57(1), 31–37. https://doi.org/10.1136/jmedgenet-2019-106011
   PubMed Web of Science ®Google Scholar
• Martinez, G., Kherraf, Z. E., Zouari, R., Fourati Ben Mustapha, S., Saut, A., Pernet-Gallay, K., Bertrand, A., Bidart, M., Hograindleur, J. P., Amiri-Yekta, A., Kharouf, M., Karaouzène, T., Thierry-Mieg, N., Dacheux-Deschamps, D., Satre, V., Bonhivers, M., Touré, A., Arnoult, C., Ray, P. F., & Coutton, C. (2018). Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. Human Reproduction (Oxford, England), 33(10), 1973–1984. https://doi.org/10.1093/humrep/dey264
   PubMed Web of Science ®Google Scholar
• Martin, C., & Woodland, E. (2021). Sperm Selection Technology in ART. Seminars in Reproductive Medicine, 39(5-06), 200–206. https://doi.org/10.1055/s-0041-1732313
   PubMed Web of Science ®Google Scholar
• Mehdi, M., Khantouche, L., Ajina, M., & Saad, A. (2009). Detection of DNA fragmentation in human spermatozoa: correlation with semen parameters. Andrologia, 41(6), 383–386. https://doi.org/10.1111/j.1439-0272.2009.00953.x
   PubMed Web of Science ®Google Scholar
• Mitchell, V., Rives, N., Albert, M., Peers, M. C., Selva, J., Clavier, B., Escudier, E., & Escalier, D. (2006). Outcome of ICSI with ejaculated spermatozoa in a series of men with distinct ultrastructural flagellar abnormalities. Human Reproduction, 21(8), 2065–2074. https://doi.org/10.1093/humrep/del130
   PubMed Web of Science ®Google Scholar
• Nordhoff, V. (2015). How to select immotile but viable spermatozoa on the day of intracytoplasmic sperm injection? An embryologist’s view. Andrology, 3(2), 156–162. https://doi.org/10.1111/andr.286
   PubMed Web of Science ®Google Scholar
• Ortega, C., Verheyen, G., Raick, D., Camus, M., Devroey, P., & Tournaye, H. (2011). Absolute asthenozoospermia and ICSI: what are the options? Human Reproduction Update, 17(5), 684–692. https://doi.org/10.1093/humupd/dmr018
   PubMed Web of Science ®Google Scholar
• Palomar Rios, A., Gascón, A., Martínez, J. V., Balasch, S., & Molina Botella, I. (2018). Sperm preparation after freezing improves motile sperm count, motility, and viability in frozen-thawed sperm compared with sperm preparation before freezing-thawing process. Journal of Assisted Reproduction and Genetics, 35(2), 237–245. https://doi.org/10.1007/s10815-017-1050-z
   PubMed Web of Science ®Google Scholar
• Rappa, K. L., Rodriguez, H. F., Hakkarainen, G. C., Anchan, R. M., Mutter, G. L., & Asghar, W. (2016). Sperm processing for advanced reproductive technologies: Where are we today? Biotechnology Advances, 34(5), 578–587. https://doi.org/10.1016/j.biotechadv.2016.01.007
   PubMed Web of Science ®Google Scholar
• Rives, N., Mousset-Simeon, N., Mazurier, S., & Mace, B. (2005). Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. Journal of Andrology, 26(1), 61–69. https://doi.org/10.1002/j.1939-4640.2005.tb02873.x
   PubMedGoogle Scholar
• Rubio, C., Simón, C., Blanco, J., Vidal, F., Mínguez, Y., Egozcue, J., Crespo, J., Remohí, J., & Pellicer, A. (1999). Implications of sperm chromosome abnormalities in recurrent miscarriage. Journal of Assisted Reproduction and Genetics, 16(5), 253–258. https://doi.org/10.1023/a:1020315529090
   PubMed Web of Science ®Google Scholar
• Sellami, A., Chakroun, N., Ben Zarrouk, S., Sellami, H., Kebaili, S., Rebai, T., & Keskes, L. (2013). Assessment of chromatin maturity in human spermatozoa: useful aniline blue assay for routine diagnosis of male infertility. Advances in Urology, 2013, 578631–578638. https://doi.org/10.1155/2013/578631
   PubMedGoogle Scholar
• Sha, Y. W., Wang, X., Su, Z. Y., Mei, L. B., Ji, Z. Y., Bao, H., & Li, P. (2019). Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection. Andrologia, 51(1), e13151. https://doi.org/10.1111/and.13151
   PubMed Web of Science ®Google Scholar
• Simon, L., Murphy, K., Shamsi, M. B., Liu, L., Emery, B., Aston, K. I., Hotaling, J., & Carrell, D. T. (2014). Paternal influence of sperm DNA integrity on early embryonic development. Human Reproduction, 29(11), 2402–2412. https://doi.org/10.1093/humrep/deu228
   PubMed Web of Science ®Google Scholar
• Sivanarayana, T., Krishna, C. R., Prakash, G. J., Krishna, K. M., Madan, K., Rani, B. S., Sudhakar, G., & Raju, G. A. (2012). CASA derived human sperm abnormalities: correlation with chromatin packing and DNA fragmentation. Journal of Assisted Reproduction and Genetics, 29(12), 1327–1334. https://doi.org/10.1007/s10815-012-9885-9
   PubMed Web of Science ®Google Scholar
• Tang, S. S., Gao, H., Zhao, Y., & Ma, S. (2010). Aneuploidy and DNA fragmentation in morphologically abnormal sperm. International Journal of Andrology, 33(1), e163–e179. https://doi.org/10.1111/j.1365-2605.2009.00982.x
   PubMedGoogle Scholar
• Terriou, P., Hans, E., Cortvrindt, R., Avon, C., Charles, O., Salzmann, J., Lazdunski, P., & Giorgetti, C. (2015). Papaverine as a replacement for pentoxifylline to select thawed testicular or epididymal spermatozoa before ICSI. Gynecologie, Obstetrique & Fertilite, 43(12), 786–790. https://doi.org/10.1016/j.gyobfe.2015.10.007
   PubMedGoogle Scholar
• Touré, A., Martinez, G., Kherraf, Z. E., Cazin, C., Beurois, J., Arnoult, C., Ray, P. F., & Coutton, C. (2021). The genetic architecture of morphological abnormalities of the sperm tail. Human Genetics, 140(1), 21–42. https://doi.org/10.1007/s00439-020-02113-x
   PubMed Web of Science ®Google Scholar
• Viville, S., Mollard, R., Bach, M. L., Falquet, C., Gerlinger, P., & Warter, S. (2000). Do morphological anomalies reflect chromosomal aneuploidies?: case report. Human Reproduction, 15(12), 2563–2566. https://doi.org/10.1093/humrep/15.12.2563
   PubMed Web of Science ®Google Scholar
• Wambergue, C., Zouari, R., Fourati Ben Mustapha, S., Martinez, G., Devillard, F., Hennebicq, S., Satre, V., Brouillet, S., Halouani, L., Marrakchi, O., Makni, M., Latrous, H., Kharouf, M., Amblard, F., Arnoult, C., Ray, P. F., & Coutton, C. (2016). Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection. Human Reproduction, 31(6), 1164–1172. https://doi.org/10.1093/humrep/dew083
   PubMed Web of Science ®Google Scholar
• Wang, X., Jin, H., Han, F., Cui, Y., Chen, J., Yang, C., Zhu, P., Wang, W., Jiao, G., Wang, W., Hao, C., & Gao, Z. (2017). Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese. Clinical Genetics, 91(2), 313–321. https://doi.org/10.1111/cge.12857
   PubMed Web of Science ®Google Scholar
• WHO. (2010). World Heath Statistics: 2010. World Heath Organization. https://www.who.int/publications/i/item/9789241563987
   Google Scholar
• Zhuang, B. J., Xu, S. Y., Dong, L., Zhang, P. H., Zhuang, B. L., Huang, X. P., Li, G. S., You, Y. D., Chen, D., Yu, X. J., & Chang, D. G. (2022). Novel DNAH1 mutation loci lead to multiple morphological abnormalities of the sperm flagella and literature review. The World Journal of Men’s Health, 40(4), 551–560. https://doi.org/10.5534/wjmh.210119
   PubMedGoogle Scholar
• Zidi-Jrah, I., Hajlaoui, A., Mougou-Zerelli, S., Kammoun, M., Meniaoui, I., Sallem, A., Brahem, S., Fekih, M., Bibi, M., Saad, A., & Ibala-Romdhane, S. (2016). Relationship between sperm aneuploidy, sperm DNA integrity, chromatin packaging, traditional semen parameters, and recurrent pregnancy loss. Fertility and Sterility, 105(1), 58–64. https://doi.org/10.1016/j.fertnstert.2015.09.041
   PubMed Web of Science ®Google Scholar