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Chapter 7 - Chromosomal Causes of Infertility

Published online by Cambridge University Press:  15 December 2022

By
Svetlana A. Yatsenko  and
Aleksandar Rajkovic
Edited by
Stéphane Viville  and
Karen D. Sermon
Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
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Summary

The genetic causes of male infertility are highly heterogeneous, and a large portion of these causes remains unexplained. More than 2300 testes-specific genes may contribute to male infertility [1]. Primary testicular disorders affecting spermatogenesis are commonly associated with abnormal semen parameters, including sperm concentration (oligozoospermia or azoospermia), morphology, motility, and vitality. Studies in infertile men have demonstrated that up to 20% carry constitutional chromosome aberrations [2–5]. Genomic aberrations found in these patients include numerical abnormalities, such as Klinefelter syndrome and its variants; XYY karyotype; testicular disorders of sex development, such as XX males; structural chromosome rearrangements, including Robertsonian translocations, balanced reciprocal translocations and inversions; as well as submicroscopic DNA copy number alterations (microdeletions and microduplications) encompassing genes associated with spermatogenesis or gonadal development.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 99 - 115
Publisher: Cambridge University Press
Print publication year: 2023

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References

Schultz, N, Hamra, FK, Garbers, DL. A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci USA 2003;100:12201–6.CrossRefGoogle ScholarPubMed
Krausz, C, Riera-Escamilla, A. Genetics of male infertility. Nat Rev Urol 2018;15:369–84.Google Scholar
Heard, E, Turner, J. Function of the sex chromosomes in mammalian fertility. Cold Spring Harb Perspect Biol 2011:3(10):a002675.Google Scholar
Walsh, TJ, Pera, RR, Turek, PJ. The genetics of male infertility. Semin Reprod Med 2009;27:124–36.CrossRefGoogle ScholarPubMed
Wikström, AM, Dunkel, L. Testicular function in Klinefelter syndrome. Horm Res 2008;69:317–26.Google Scholar
Martin, RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14:379–90.Google Scholar
Hennebicq, S, Pelletier, R, Bergues, U, et al. Risk of trisomy 21 in offspring of patients with Klinefelter’s syndrome. Lancet 2001;357:2104–5.CrossRefGoogle ScholarPubMed
Kuroda-Kawaguchi, T, Skaletsky, H, Brown, LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001;29:279–86.Google Scholar
Krausz, C, Casamonti, E. Spermatogenic failure and the Y chromosome. Hum Genet 2017;136:637–55.Google Scholar
Kousta, E, Papathanasiou, A, Skordis, N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. Hormones (Athens) 2010;9:218–31.CrossRefGoogle Scholar
Grinspon, RP, Rey, RA. Disorders of sex development with testicular differentiation in SRY-negative 46,XX individuals: clinical and genetic aspects. Sex Dev 2016;10:1–11.Google Scholar
Ferguson, KA, Wong, EC, Chow, V, Nigro, M, Ma, S. Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy. Hum Mol Genet 2007;16:2870–9.Google Scholar
Marchetti, F, Wyrobek, AJ. Mechanisms and consequences of paternally-transmitted chromosomal abnormalities. Birth Defects Res C Embryo Today 2005;75:112–29.CrossRefGoogle ScholarPubMed
Madan, K. Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet A 2012;158A:947–63.Google Scholar
Roux, C, Tripogney, C, Morel, F, et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res 2005;111:291–6.CrossRefGoogle ScholarPubMed
Engels, H, Eggermann, T, Caliebe, A, et al. Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 2008;146A:2611–16.Google Scholar
Machev, N, Gosset, P, Warter, S, et al. Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidences of an interchromosomal effect. Fertil Steril 2005;84:365–73.CrossRefGoogle ScholarPubMed
Viville, S, Mollard, R, Bach, M-L, et al. Do morphological anomalies reflect chromosomal aneuploidies? Hum Reprod 2000;15:2563–6.CrossRefGoogle ScholarPubMed
Simpson, JL, Rajkovic, A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999;89:186–200.Google Scholar
Yatsenko, SA, Rajkovic, A. Genetics of human female infertility. Biol Reprod 2019;101:549–66.CrossRefGoogle ScholarPubMed
Yatsenko, SA, Wood-Trageser, M, Chu, T, et al. A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency. Genet Med 2019;21:2275–84.CrossRefGoogle ScholarPubMed
Doğer, E, Çakıroğlu, Y, Ceylan, Y, et al. Reproductive and obstetric outcomes in mosaic Turner’s syndrome: a cross-sectional study and review of the literature. Reprod Biol Endocrinol 2015;13:59.CrossRefGoogle ScholarPubMed
Tartaglia, NR, Howell, S, Sutherland, A, Wilson, R, Wilson, L. A review of trisomy X (47,XXX). Orphanet J Rare Dis 2010;5:8.CrossRefGoogle Scholar
McGuire, MM, Bowden, W, Engel, NJ, et al. Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. Fertil Steril 2011;95:1595–600.CrossRefGoogle ScholarPubMed
Rajcan-Separovic, E. Chromosome microarrays in human reproduction. Hum Reprod Update 2012;18:555–67.CrossRefGoogle ScholarPubMed
Desjardins, MK, Stephenson, MD. “Information-rich” reproductive outcomes in carriers of a structural chromosome rearrangement ascertained on the basis of recurrent pregnancy loss. Fertil Steril 2012;97:894–903.Google Scholar
Jorgensen, PB, Kjartansdóttir, KR, Fedder, J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril 2010;94:105–13.Google Scholar
Gravholt, CH, Andersen, NH, Conway, GS, et al. International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1–G70.CrossRefGoogle Scholar
Stahl, PJ, Masson, P, Mielnik, A, et al. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil Steril 2010;94:1753–6.Google Scholar
Berntsen, S, Söderström-Anttila, V, Wennerholm, UB, et al. The health of children conceived by ART: “the chicken or the egg?” Hum Reprod Update 2019;25:137–58.CrossRefGoogle Scholar

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