We report a case of oligoasthenoteratozoospermia in a 40 year-old @entity1 with a familial history that revealed multiple cases of @entity249 and perinatal @entity204 . The @entity1 '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 @entity156 (2-5). The midpiece was elongated and/or enlarged with cytoplasmic droplets in 15% of cells. The @entity156 index (MAI) was 3.3 (normal value = 1.6), reflecting the high incidence of @entity154 in this @entity1 . 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 @entity177 , the origin of which is discussed.

Familial sperm polyploidy induced by genetic spermatogenesis XXXX : case report.

@entity1 :: ('9606', 'Species') :: ['patient'] @entity154 :: ('MESH:D000013', 'Disease') :: ['spermatozoal morphological abnormalities'] @entity249 :: ('MESH:D007246', 'Disease') :: ['infertility'] @entity156 :: ('MESH:D000015', 'Disease') :: ['multiple anomalies', 'multiple flagella'] @entity177 :: ('MESH:D051437', 'Disease') :: ['failure'] @entity204 :: ('MESH:D003643', 'Disease') :: ['deaths']
@entity177 :: (MESH:D051437,Disease) :: ['failure']
