title: Familial sperm polyploidy induced by genetic spermatogenesis failure: case report.
abstract: 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 2x10(6) 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.
authors.affiliation: Service d'Histologie Embryologie Cytogénétique, Hôpital Jean Verdier, 93140 Bondy, France. brigitte.benzacken@jvr.ap-hop-paris.fr
authors.forename: B
authors.initials: B
authors.lastname: Benzacken
authors.forename: F M
authors.initials: FM
authors.lastname: Gavelle
authors.forename: B
authors.initials: B
authors.lastname: Martin-Pont
authors.forename: O
authors.initials: O
authors.lastname: Dupuy
authors.forename: N
authors.initials: N
authors.lastname: Lièvre
authors.forename: J N
authors.initials: JN
authors.lastname: Hugues
authors.forename: J P
authors.initials: JP
authors.lastname: Wolf
mesh_terms: D000177:Acrosome / Q000473:pathology; D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure; D002843:Chromatin / Q000648:ultrastructure; D003593:Cytoplasm / Q000648:ultrastructure; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D011123:Polyploidy; D013076:Sperm Count; D013081:Sperm Motility; D013082:Sperm Tail / Q000648:ultrastructure; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa / Q000002:abnormalities* / Q000648:ultrastructure
chemical_list: D002843:Chromatin