Sperm morphology and aneuploidies: defects of supposed genetic origin

As individuals with genetic sperm defects are intracytoplasmic sperm injection candidates, the study of the chromosomal constitution of their spermatozoa is of great interest. This study is a review of the current literature concerning fluorescence in situ hybridisation studies in spermatozoa with genetic sperm defect as 'round head', 'dysplasia of fibrous sheath' (DFS), 'primary ciliary dyskinesia' (PCD), the 'detached tail' and the 'absence of fibrous sheath'. Regarding sperm head defects, elevated XY disomy and diplodies were detected. Genetic defects affecting the sperm tail seemed to have a different correlation with chromosome meiotic segregation. Only chromosome 18, among the autosomes, was studied and the percentage of frequency of disomy was generally within the normal range. In the more frequently studied defect, DFS, the alterations in gonosome disomy and diploidy were recorded by different groups. Regarding PCD defects, elevated frequencies of disomy of sex chromosomes and diploidy were observed, whereas the absence of the fibrous sheath and the detached tail did not show any meiotic disturbance. The problem of genetic sperm defects should be seriously considered when these sperm are used for assisted reproduction, owing to the high risk of transmission of chromosomal imbalance and of mutations that could cause genetic sperm defects in offspring.