Familial sperm polyploidy induced by genetic spermatogenesis failure: case report

Hum Reprod. 2001 Dec;16(12):2646-51. doi: 10.1093/humrep/16.12.2646.

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.

Publication types

  • Case Reports

MeSH terms

  • Acrosome / pathology
  • Adult
  • Cell Nucleus / ultrastructure
  • Chromatin / ultrastructure
  • Cytoplasm / ultrastructure
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Karyotyping
  • Male
  • Microscopy, Electron
  • Pedigree
  • Polyploidy*
  • Sperm Count
  • Sperm Motility
  • Sperm Tail / ultrastructure
  • Spermatogenesis / genetics*
  • Spermatozoa / abnormalities*
  • Spermatozoa / ultrastructure

Substances

  • Chromatin