Familial sperm polyploidy induced by genetic spermatogenesis failure: Case report

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.

CASA derived human sperm abnormalities: correlation with chromatin packing and DNA fragmentation

“…These observations were more specific for spermatozoa with tapered or pyriform heads [21]. Macro head is another morphological abnormality reported to have a very high rate of chromatin condensation abnormalities which might be due to spermatozoa originating from germ cells with impaired meiotic divisions [37]. Similarly, the incidence of chromosomal errors in human spermatozoa with deformed heads such as amorphous form, was reported to be four times higher than sperm with normal morphology [38].…”

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

“…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. In fact, the threefold increase in aneuploidy observed in sperm from infertile men, is mirrored by a threefold increase in de novo chromosome abnormalities observed in conceptuses after intracytoplamic sperm injection compared to the general population.…”

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

“…All of the studied patients presented 100 % teratozoospermia, with enlarged head spermatozoa, percentage ranging from 18.9 to 100 %, with or without acrosome and abnormalities in tail structure. A large variety of chromosomes were analyzed (1, 3, 8, 11, 12, 17, 18, X and Y) and in all cases an extremely elevated aneuploidy frequency was found (Yurov et al, 1996;In't Veld et al, 1997;Weissenberg et al, 1998;Viville et al, 2000;Benzacken et al, 2001;Devillard et al, 2002;Lewis-Jones et al, 2003;Vicari et al, 2003), with the exception of two patients in Vicari et al (2003). Indeed, Vicari et al who compared three patients with different levels of enlarged head spermatozoa (54.3 %, 18.9 % and 26.5 % respectively) observed XY disomy in patients with the highest percentage of enlarged heads but not in the others (15.94 %, 0 %, 0 % respectively).…”