Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: asthenozoospermia

Abstract

The aim of aneuploidy evaluation in spermatozoa from patients presenting spermatogenesis defects is to identify a relationship between meiotic errors and quantitative or qualitative alterations of spermatogenesis. During the past ten years, the use of fluorescence in situ hybridization (FISH) has permitted the determination of the frequency of numerical chromosome aberrations in different clinical situations. It has been established that infertile males with reduced sperm count and a normal constitutional karyotype have a significantly high risk of aneuploidy in their spermatozoa particularly regarding sex chromosomes. Concerning sperm motility, the data are more controversial. However, patients of severe asthenozoospermia induced by specific morphological deformities involving sperm flagella have a significantly high risk of producing aneuploid spermatozoa.

The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

“…Although low motility was observed for RobT patients (compared with 46,XY patients), the increased aneuploidy rate was probably due to occurrence of the translocation. An increased aneuploidy rate was observed only for patients with <5% motile sperm (35)(36)(37).…”

Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

“…Whereas the link between a low sperm count and an increased risk of aneuploidies in spermatozoa is widely accepted, the relationship between chromosome abnormalities and sperm motility is more controversial (7,30). Although some investigators have reported a certain correlation between the two parameters (26,(30)(31)(32), especially for sex chromosomes, other studies have failed to find any relationship (25,27,33).…”

“…Several investigators have reported a high number of chromosomal abnormalities in spermatozoa from patients with an altered seminogram (4)(5)(6)(7)(8). This result has been related to the diminished fertility of the patients and to an increased risk for the transmission of abnormalities.…”

Sperm FISH and chromatin integrity in spermatozoa from a t(6;10;11) carrier

“…However, it cannot be excluded that CCR carriers are more prone to exhibit ICE because of the substantially high numbers of chromosomes involved in rearrangement, especially with regard to the ongoing debate on the influence of chromosomal rearrangements on the proper meiotic behaviour of other chromosomes. It has also been documented that increased aneuploidy rates can be present in spermatozoa of males with decreased sperm seminological parameters (OAT -oligo-, astheno-, teratozoospermia) (Hristova et al 2002, Tempest & Griffin 2004, Machev et al 2005, Miharu 2005, Rives 2005, Tang et al 2010. A large majority of findings indicate a well-defined link between ICE presence and oligozoospermia, while no such clear association has been observed in cases of astheno-or teratozoospermia (Tempest & Griffin 2004, Machev et al 2005, Miharu 2005, Rives 2005).…”