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Human Reproduction, Vol. 16, No. 12, 2646-2651, December 2001
© 2001 European Society of Human Reproduction and Embryology

Familial sperm polyploidy induced by genetic spermatogenesis failure: Case report

Brigitte Benzacken1,5, Frédérique Monier Gavelle1, Brigitte Martin-Pont1, Olivier Dupuy2, Nicole Lièvre3, Jean-Noël Hugues4 and Jean-Philippe Wolf1

1 Service d'Histologie Embryologie Cytogénétique, Hôpital Jean Verdier, 93140 Bondy, 2 Service d'Histologie Embryologie Cytogénétique, Hôpital Robert Debré, 75019 Paris, 3 Service d'Histologie Embryologie, Faculté de Médecine Léonard de Vinci, 93017 Bobigny and 4 Service de Médecine de la Reproduction, Hôpital Jean Verdier, 93140 Bondy, France

We report a case of oligoasthenoteratozoospermia in a 40 year-old patient with a familial history that revealed multiple cases of infertility and perinatal deaths. The patient's semen sample contained 2x106 spermatozoa/ml, with an overall progressively motile population of <5%. Cytological analysis revealed a teratozoospermia with 100% of abnormal macrocephalic sperm heads and an irregular acrosomal cap in 38% of cells. Moreover, 72% of spermatozoa carried multiple flagella (2–5). The midpiece was elongated and/or enlarged with cytoplasmic droplets in 15% of cells. The multiple anomalies index (MAI) was 3.3 (normal value = 1.6), reflecting the high incidence of spermatozoal morphological abnormalities in this patient. Ultrastructural analysis revealed the presence of 2 or 3 vacuolated nuclei per sperm head. The acrosome was abnormal and the chromatin, partially packaged, appeared rough. In some cases, a large amount of cytoplasm containing vacuoles was observed around the nucleus and the acrosome. The mitochondrial helix was disorganized. Chromosome analysis performed on blood cells revealed a normal karyotype. Three-colour fluorescence in-situ hybridization (FISH) analysis of 1148 spermatozoa showed 21.6% to be diploid, 62.4% triploid, 13.3% quadriploid and 2.7% hyperploid (<4n). In conclusion, we suggest that this case could result from a genetically induced spermiation failure, the origin of which is discussed.

Key words: chromosome abnormality/FISH/human spermatozoa/male infertility/spermatogenesis

5 To whom correspondence should be addressed at: Service d'Histologie Embryologie Cytogénétique, Hôpital Jean Verdier, Av. du 14 Juillet, 93140 Bondy, France. E-mail: brigitte.benzacken{at}jvr.ap-hop-paris.fr


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