Frequency of hyper-, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients

Abstract

The hypothesis that sperm aneuploidy and diploidy increase as a function of spermatogenesis impairment was addressed. Ejaculated semen samples from a series of men (n = 22) with very low total normal motile count (1 x 10(6)) was analysed in terms of sperm aneuploidy and diploidy by in-situ hybridization and compared with controls (n = 10). Germ cell aneuploidy was also analysed in an additional series of infertile patients presenting unexplained infertility (n = 3), congenital absence of the vas deferens (CAVD) (n = 6) and non-obstructive azoospermia (n = 3) undergoing IVF, microsurgical epididymal sperm aspiration (MESA)/ICSI and testicular sperm extraction (TESE)/ICSI cycles respectively. In-situ hybridization for chromosomes 1, 17, X and Y was performed on ejaculate, epididymal and testicular spermatozoa. Significantly higher sperm aneuploidy and diploidy rates where found (for the four chromosomes analysed) in spermatozoa from oligoasthenoteratozoospermia (OAT) over controls (18 versus 2.28% and 2.8 versus 0.13% respectively; P < 0.001). Testicular germ cells had even higher rates of sperm aneuploidy and diploidy. However, in this group it was difficult to determine whether the cells analysed were dysmorphic spermatozoa or spermatids. The data warrant further investigation on the cytogenetic abnormalities found in most germ cells identified in testicular tissue biopsies of azoospermic patients.

Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia

“…20 This study has shown that patients with OA or NOA have a high rate of numerical chromosome abnormalities in spermatozoa extracted from the epididymis or the testis respectively, confirming recent preliminary results. 7,21 Thus these data extend the high aneuploidy rate found in ejaculated spermatozoa of infertile men with various degree of semen abnormalities (which others and ourselves have demonstrated 3 ± 11, ) to spermatozoa extracted from the epididymes or the testes of patients with azoospermia.…”

Meiotic recombination and male infertility: from basic science to clinical reality?

“…26,67 The majority of aneuploidy studies in sperm from infertile men report around a threefold increase in sperm aneuploidy levels compared to controls, with levels of up to 10-fold being reported; predominantly for severe infertility (severe oligoasthenoteratozoospermia and azoospermia). 68,69 There are a few case reports of extraordinarily high levels of aneuploid and polyploid sperm (50-100%) in individuals with a high proportion of macrocephalic, multinucleated and multiflagellate sperm. [70][71][72][73] It perhaps counterintuitive but there is little or no evidence to suggest that there is a preferential selection of chromosomally normal sperm for fertilization.…”

DNA Fragmentation, Mitochondrial Dysfunction and Chromosomal Aneuploidy in the Spermatozoa of Oligoasthenoteratozoospermic Males

“…Chromosomal abnormalities have been extensively found in the spermatozoa of many infertile men (17)(18)(19)(20)(21). The incidence of chromosomal structural aberrations increases among patients undergoing ICSI programs than those on IVF programs (20,21).…”