Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection

Fertility and Sterility

Volumn 86, Issue 3, 2006, Pages 719.e1-719.e7

  Ravel, Celia ^a,b   Chantot Bastaraud, Sandra ^a,b   Siffroi, Jean Pierre ^a,b   Escalier, Denise ^c   Antoine, Jean Marie ^a   Mandelbaum, Jacqueline ^a,b  

^a HÔPITAL TENON   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Chromosomal translocation; flagella; ICSI; spermatozoa

Indexed keywords

ADULT; ARTICLE; AUTOSOME; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME 5P; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 5; DIPLOIDY; DISEASE ASSOCIATION; ELECTRON MICROSCOPY; FAMILIAL DISEASE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE PROBE; GERM CELL; HOSPITAL DEPARTMENT; HUMAN; HUMAN CELL; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE; MALE; MALE INFERTILITY; MEIOSIS; PRIORITY JOURNAL; SEMEN ANALYSIS; SPERM; SPERM TAIL STUMP SYNDROME; SPERMATOZOON; SPONTANEOUS ABORTION; TWIN PREGNANCY; X CHROMOSOME; Y CHROMOSOME;

EID: 33748102468     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2005.12.078     Document Type: Article

References (33)

1. Van Assche E., Bonduelle M., Tournaye H., Joris H., Verheyen G., Devroey P., et al. Cytogenetics of infertile men. Hum Reprod 11 Suppl 4 (1996) 1-24
2. Gekas J., Thepot F., Turleau C., Siffroi J.P., Dadoune J.P., Briault S., et al., Association des Cytogeneticiens de Langue Francaise. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod 16 (2001) 82-90
3. Clementini E., Palka C., Iezzi I., Stuppia L., Guanciali-Franchi P., and Tiboni G.M. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 20 (2005) 437-442
4. World Health Organization. WHO Laboratory manual for the examination of human semen and semen-cervical mucus interaction (1999), Cambridge University Press, New York
5. Escalier D. Human spermatozoa with large heads and multiple flagella: a quantitative ultrastructural study of 6 cases. Biol Cell 48 (1983) 65-74
6. Benzacken B., Gavelle F.M., Martin-Pont B., Dupuy O., Lievre N., Hugues J.N., et al. Familial sperm polyploidy induced by genetic spermatogenesis failure: case report. Hum Reprod 16 (2001) 2646-2651
7. Merviel P., Antoine J.M., Mathieu E., Millot F., Mandelbaum J., and Uzan S. Luteinizing hormone concentrations after gonadotropin-releasing hormone administration do not influence pregnancy rates in in vitro fertilization-embryo transfer. Fertil Steril 82 (2004) 119-125
8. Lilford R., Jones A.M., Bishop D.T., Thornton J., and Mueller R. Case-control study of whether subfertility in men is familial. BMJ 309 (1994) 570-573
9. Gianotten J., Westerveld G.H., Leschot N.J., Tanck M.W., Lilford R.J., Lombardi M.P., et al. Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern. Hum Reprod 19 (2004) 71-76
10. Kilani Z., Ismail R., Ghunaim S., Mohamed H., Hughes D., Brewis I., et al. Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril 82 (2004) 1436-1439
11. Baccetti B., Burrini A.G., Collodel G., Piomboni P., and Renieri T.A. "Miniacrosome" sperm defect causing infertility in two brothers. J Androl 12 (1991) 104-111
12. Baccetti B., Burrini A.G., Collodel G., Magnano A.R., Piomboni P., Renieri T., et al. Morphogenesis of the decapitated and decaudated sperm defect in two brothers. Gamete Res 23 (1989) 181-188
13. Chemes H.E., Puigdomenech E.T., Carizza C., Olmedo S.B., Zanchetti F., and Hermes R. Acephalic spermatozoa and abnormal development of the head-neck attachment: a human syndrome of genetic origin. Hum Reprod 14 (1999) 1811-1818
14. Chemes H.E., Olmedo S.B., Carrere C., Oses R., Carizza C., Leisner M., et al. Ultrastructural pathology of the sperm flagellum: association between flagellar pathology and fertility prognosis in severely asthenozoospermic men. Hum Reprod 13 (1998) 2521-2526
15. Leonard C., Bisson J.P., and David G. Male sterility associated with familial translocation heterozygosity: t(8;15) (q22;p11). Arch Androl 2 (1979) 269-275
16. Eiben B., Leipoldt M., Rammelsberg O., Krause W., and Engel W. High incidence of minor chromosomal variants in teratozoospermic males. Andrologia 19 (1987) 684-687
17. Mazzilli F., Gelli G.F., Rossi T., Carcangiu A., and Dondero F. Semen analysis and seminal plasma biochemistry in two brothers with familial reciprocal translocation 46,XY,t(8;9)(p10;p10) transmitted by the father. Panminerva Med 41 (1999) 265-268
18. Baccetti B., Capitani S., Collodel G., Strehler E., and Piomboni P. Recent advances in human sperm pathology. Contraception 65 (2002) 283-287
19. Baccetti B., Bruni E., Collodel G., Gambera L., Moretti E., Marzella R., et al. 10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report. Hum Reprod 18 (2003) 2302-2308
20. Templado C., Hoang T., Greene C., Rademaker A., Chernos J., and Martin R. Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev 61 (2002) 200-204
21. Gabriel-Robez O., and Rumpler Y. The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. I: Inversions and insertions. A European collaborative study. Ann Genet 37 (1994) 3-10
22. Solari A.J. Synaptonemal complex analysis in human male infertility. Eur J Histochem 43 (1999) 265-276
23. Escalier D. Microtubular disorders in human spermatozoa. In: De Brabander M., and De Mey J. (Eds). Microtubules and microtubule inhibitors (1985), Elsevier Science Publishers B.V, Amsterdam 345-352
24. Escalier D. Genetic approach to meiotic division deficiency: the human macronuclear spermatozoa. Mol Hum Reprod 8 (2002) 1-7
25. Van den Bergh M., Bertrand E., Biramane J., and Englert Y. Importance of breaking a spermatozoon's tail before intracytoplasmic injection: a prospective randomised trial. Hum Reprod 10 (1995) 2819-2820
26. Ebner T., Yaman C., Moser M., Sommergruber M., Hartl J., and Tews G. Laser assisted immobilization of spermatozoa prior to intracytoplasmic sperm injection in humans. Hum Reprod 16 (2001) 2628-2631
27. Stalf T., Sanchez R., Kohn F.M., Schalles U., Kleinstein J., Hinz V., et al. Pregnancy and birth after intracytoplasmic sperm injection with spermatozoa from a patient with tail stump syndrome. Hum Reprod 10 (1995) 2112-2114
28. Favero R., Rizzo F., Baccetti B., and Piomboni P. Embryo development, pregnancy and twin delivery after microinjection of "stump" spermatozoa. Andrologia 31 (1999) 335-338
29. Martin R.H., and Spriggs E.L. Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46,XY,t(9;13)(q21.1;q21.2) and a review of the literature. Clin Genet 47 (1995) 42-46
30. Hristova R., Ko E., Greene C., Rademaker A., Chernos J., and Martin R. Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. Biol Reprod 66 (2002) 1781-1783
31. Lewis-Jones I., Aziz N., Seshadri S., Douglas A., and Howard P. Sperm chromosomal abnormalities are linked to sperm morphologic deformities. Fertil Steril 79 (2003) 212-215
32. Rives N., Mousset-Simeon N., Mazurier S., and Mace B. Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. J Androl 26 (2005) 61-69
33. Shi Q., and Martin R.H. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 121 (2001) 655-666