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Chromosomal Aberrations and Aneuploidies of Spermatozoa

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Genetic Damage in Human Spermatozoa

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 791))

Abstract

Chromosomal abnormalities are relevant causes of human infertility, affecting 2 –14 % of infertile males. Patients with seminal anomalies could be affected by improper meiotic recombination and increased sperm chromosome aneuploidy. Since the transmission of a haploid chromosomal asset is fundamental for embryo vitality and development, the study of sperm chromosomes has become fundamental because intracytoplasmic sperm injection allows fertilization in cases of severe male infertility.

In this chapter we summarize the data on the incidence of sperm aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile men with normal or abnormal karyotype. The possibility of reducing sperm chromosomal imbalance is also reported.

Among control males, the lowest aneuploidy rate was detected (range: 0.09 –0.14 % for autosomes; 0.04 –0.10 % for gonosomes). In infertile patients with normal karyotype, the severity of semen alteration is correlated with the frequency of aneuploidy, particularly for X and Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers showed a high variability of sperm aneuploidy both for gonosomes and autosomes. In Robertsonian translocation carriers, the increase in aneuploidy rate was particularly evident for total sex disomy, and resulted mainly from interchromosomal effect (ICE). In reciprocal translocation carriers, a high percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly related to ICE.

Sperm chromosomal constitution could be analyzed to obtain more accurate information about the causes of male infertility. It would be worthwhile to evaluate the benefits of a therapy with recombinant Follicle Stimulating Hormone (rFSH) on sperm chromosome segregation in selected infertile males.

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Authors and Affiliations

  1. Department of Molecular and Developmental Medicine, University of Siena, Viale Bracci 14, 53100, Siena, Italy

    Paola Piomboni, Anita Stendardi & Laura Gambera

  2. Center for Diagnosis and Treatment of Couple Sterility, S. Maria alle Scotte Hospital, Viale Bracci 14, 53100, Siena, Italy

    Paola Piomboni & Laura Gambera

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  1. Paola Piomboni
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  2. Anita Stendardi
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  3. Laura Gambera
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Correspondence to Paola Piomboni .

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  1. Department of Experimental and Clinical Biomedical Sciences, Florence, Italy

    Elisabetta Baldi

  2. Department of Experimental and Clinical Biomedical Sciences, Florence, Italy

    Monica Muratori

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Piomboni, P., Stendardi, A., Gambera, L. (2014). Chromosomal Aberrations and Aneuploidies of Spermatozoa. In: Baldi, E., Muratori, M. (eds) Genetic Damage in Human Spermatozoa. Advances in Experimental Medicine and Biology, vol 791. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7783-9_3

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