Skip to main content
Download PDF

Avons-nous percé le mystère de la globozoospermie ?

Have we unravelled the mystery of globozoospermia?

Basic and Clinical Andrology volume 21, pages 230–233 (2011)Cite this article

Résumé

Si la première description de la globozoocéphalie date de 1971, il aura fallu plus de 35 ans pour identifier la première cause génétique (une altération du gène SPATA16), et cela malgré la création de nombreux modèles murins et la certitude d’une cause purement génétique à ce syndrome par l’observation de fratrie de patients atteints. Malgré l’identification récente de nouveaux gènes comme PICK1 et DPY19L2, la globozoocéphalie reste toujours un mystère. En effet, ce syndrome est probablement très polymorphe, comme le suggèrent les observations en microscopie électronique, et il est associé à un très mauvais taux de succès en assistance médicale à la procréation (AMP). Les prochaines études devront donc s’attacher à comprendre les mécanismes à l’origine de cette globozoocéphalie et à identifier des traitements pouvant contourner les déficits spermatiques majeurs associés à ce syndrome.

Abstract

Globozoocephaly was first described in 1971, and 35 years were necessary to identify the first genetic origin (SPATA16 mutation), despite the development of many mice models and the certainty of a genetic origin for this syndrome taking into account observations in many siblings. Despite the recent identification of the new genes PICK1 and DPY19L2, globozoocephaly is still a mystery. This syndrome is probably polymorphic, as suggested by electronic microscopic details, and it is associated with a poor success rate in assisted reproductive tehnology (ART). Further studies are needed to understand the mechanism leading to the globozoocephalia and to define new therapeutic approaches to turn around major spermatic defects associated with this syndrome.

Références references

  1. Schirren C, Holstein A Schirren C (1971) Uber die morphogenese rundkopfiger spermatozoen des menschen. Andrologia 3:117–125

    Google Scholar 

  2. Holstein AF, Schirren CG, Schirren C, Mauss J (1973) Round headed spermatozoa: a cause of male infertility. Dtsch Med Wochenschr 98:61–62

    Article  PubMed  CAS  Google Scholar 

  3. Wolff HH, Schill WB, Moritz P (1976) Round-headed spermatozoa: a rare andrologic finding (“globe-headed spermatozoa”, “globozoospermia”). Hautarzt 27:111–116

    PubMed  CAS  Google Scholar 

  4. Kalahanis J, Rousso D, Kourtis A, et al (2002) Round-headed spermatozoa in semen specimens from fertile and subfertile men. J Reprod Med 47:489–493

    PubMed  Google Scholar 

  5. Pedersen H, Rebbe H (1974) Fine structure of round-headed human spermatozoa. J Reprod Fertil 37:51–54

    Article  PubMed  CAS  Google Scholar 

  6. Kullander S, Rausing A (1975) On round-headed human spermatozoa. Int J Fertil 20:33–40

    PubMed  CAS  Google Scholar 

  7. Sotomayor RE, Handel MA (1986) Failure of acrosome assembly in a male sterile mouse mutant. Biol Reprod 34:171–182

    Article  PubMed  CAS  Google Scholar 

  8. Xu X, Toselli PA, Russell LD, Seldin DC (1999) Globozoospermia in mice lacking the casein kinase II alpha’ catalytic subunit. Nat Genet 23:118–121

    Article  PubMed  CAS  Google Scholar 

  9. Kang-Decker N, Mantchev GT, Juneja SC, et al (2001) Lack of acrosome formation in Hrb-deficient mice. Science 294: 1531–1533

    Article  PubMed  CAS  Google Scholar 

  10. Yao R, Ito C, Natsume Y, et al (2002) Lack of acrosome formation in mice lacking a Golgi protein, GOPC. Proc Natl Acad Sci USA 99:11211–11216

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  11. Yildiz Y, Matern H, Thompson B, et al (2006) Mutation of betaglucosidase 2 causes glycolipid storage disease and impaired male fertility. J Clin Invest 116:2985–2994

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  12. Xiao N, Kam C, Shen C, et al (2009) PICK1 deficiency causes male infertility in mice by disrupting acrosome formation. J Clin Invest 119:802–812

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  13. Audouard C, Christians E (2011) Hsp90beta1 knockout targeted to male germline: a mouse model for globozoospermia. Fertil Steril 95:1475-7.e1–1475-e4

    Article  Google Scholar 

  14. Truong BN, Moses EK, Armes JE, et al (2003) Searching for candidate genes for male infertility. Asian J Androl 5:137–147

    PubMed  CAS  Google Scholar 

  15. Pirrello O, Machev N, Schimdt F, et al (2005) Search for mutations involved in human globozoospermia. Hum Reprod 20:1314–1318

    Article  PubMed  CAS  Google Scholar 

  16. Christensen GL, Ivanov IP, Atkins JF, et al (2006) Identification of polymorphisms in the Hrb, GOPC, and Csnk2a2 genes in two men with globozoospermia. J Androl 27:11–15

    Article  PubMed  CAS  Google Scholar 

  17. Liu G, Shi QW, Lu GX (2010) A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 12:556–560

    Article  PubMed  PubMed Central  Google Scholar 

  18. Dam AH, Koscinski I, Kremer JA, et al (2007) Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 81:813–820

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  19. Liao TT, Xiang Z, Zhu WB, Fan LQ (2009) Proteome analysis of round-headed and normal spermatozoa by 2-D fluorescence difference gel electrophoresis and mass spectrometry. Asian J Androl 11:683–693

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  20. Harbuz R, Zouari R, Pierre V, et al (2011) A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet 88: 351–361

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  21. Shaikh TH, Gai X, Perin JC, et al (2009) High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19:1682–1690

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  22. Dam AH, Feenstra I, Westphal JR, et al (2007) Globozoospermia revisited. Hum Reprod Update 13:63–75

    Article  PubMed  CAS  Google Scholar 

  23. Lundin K, Sjogren A, Nilsson L, Hamberger L (1994) Fertilization and pregnancy after intracytoplasmic microinjection of acrosomeless spermatozoa. Fertil Steril 62:1266–1267

    PubMed  CAS  Google Scholar 

  24. Kilani ZM, Shaban MA, Ghunaim SD, et al (1998) Triplet pregnancy and delivery after intracytoplasmic injection of round-headed spermatozoa. Hum Reprod 13:2177–2179

    Article  PubMed  CAS  Google Scholar 

  25. Yoon SY, Jellerette T, Salicioni AM, et al (2008) Human sperm devoid of PLC, zeta 1 fail to induce Ca(2+) release and are unable to initiate the first step of embryo development. J Clin Invest 118:3671–3681

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  26. Taylor SL, Yoon SY, Morshedi MS, et al (2010) Complete globozoospermia associated with PLC zeta deficiency treated with calcium ionophore and ICSI results in pregnancy. Reprod Biomed Online 20:559–564

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  27. Egashira A, Murakami M, Haigo K, et al (2009) A successful pregnancy and live birth after intracytoplasmic sperm injection with globozoospermic sperm and electrical oocyte activation. Fertil Steril 92:2037.e5–2037.e9

    Article  Google Scholar 

  28. Vicari E, Perdichizzi A, De Palma A, et al (2002) Globozoospermia is associated with chromatin structure abnormalities: case report. Hum Reprod 17:2128–2133

    Article  PubMed  Google Scholar 

  29. Brahem S, Mehdi M, Elghezal H, Saad A (2011) Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. Urology 77:1343–1348

    Article  PubMed  Google Scholar 

  30. Perrin A, Louanjli N, Ziane Y, et al (2011) Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia. Reprod Biomed Online 22:148–154

    Article  PubMed  CAS  Google Scholar 

  31. Sermondade N, Hafhouf E, Dupont C, et al (2011) Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia. Hum Reprod: epub Aug 19

Download references

Author information

Authors and Affiliations

  1. Laboratoire d’histologie, embryologie, biologie de la reproduction, cytogénétique et génétique médicale, CHI Poissy-Saint-Germain, Poissy, France

    F. Ferfouri & F. Vialard

  2. EA 2493, université Versailles-Saint-Quentin-en-Yvelines, Versailles, France

    F. Ferfouri & F. Vialard

  3. Unité de procréation médicalement assistée, hôpital Aziza-Othmana, place de La Kasbah, 1008, Bab Menara Tunis, Tunisie

    G. Merdassi

Authors
  1. F. Ferfouri
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. Merdassi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. F. Vialard
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to F. Vialard.

Rights and permissions

Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Reprints and Permissions

About this article

Cite this article

Ferfouri, F., Merdassi, G. & Vialard, F. Avons-nous percé le mystère de la globozoospermie ?. Basic Clin. Androl. 21, 230–233 (2011). https://doi.org/10.1007/s12610-011-0149-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12610-011-0149-9

Mots clés

  • Globozoocéphalie
  • Génétique
  • Globozoospermie

Keywords

  • Globozoocephalia
  • Genetics
  • Globozoospermia

Basic and Clinical Andrology

ISSN: 2051-4190