Familial sperm polyploidy induced by genetic spermatogenesis failure: case report

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.