Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-4hhp2 Total loading time: 0 Render date: 2024-05-01T04:41:18.367Z Has data issue: false hasContentIssue false

Chapter 3 - Chromosome Abnormalities and the Infertile Male

Published online by Cambridge University Press:  24 May 2020

R. John Aitken
Affiliation:
University of Newcastle, New South Wales
David Mortimer
Affiliation:
Oozoa Biomedical Inc, Vancouver
Gabor Kovacs
Affiliation:
Epworth Healthcare Melbourne
Get access

Summary

Male infertility is a highly heterogeneous, multifactorial, complex pathology of the reproductive system, affecting approximately 7% of the general male population. Genetic factors are estimated to contribute to nearly 20–25% of severe male infertility cases and inversely correlate with sperm production [1]. In fact, their frequency is 0.4% of the general population, while patients with a spermatozoa count of less than 5 million/ml already show a 10-fold higher incidence (4%) [2].

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2020

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Krausz, C. and Riera-Escamilla, A. (2018) Genetics of male infertility. Nat Rev Urol 15:369384.Google Scholar
Jungwirth, A., et al. (2012) European Association of Urology Guidelines on Male Infertility: the 2012 update. Eur Urol 62:324332.CrossRefGoogle Scholar
Krausz, C., Hoefsloot, L., Simoni, M. and Tüttelmann, F. (2014) EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2:519.Google Scholar
Dul, E. C., et al. (2012) The prevalence of chromosomal abnormalities in subgroups of infertile men. Hum Reprod 27:3643.Google Scholar
Krausz, C., et al. (2012) High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS ONE 7:e44887.Google Scholar
Kanakis, G. A. and Nieschlag, E. (2018) Klinefelter syndrome: more than hypogonadism. Metab Clin Exp DOI:10.1016/j.metabol.2017.09.017CrossRefGoogle Scholar
Corona, G., et al. (2017) Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update 23:265275.Google Scholar
Donker, R. B., et al. (2017) Chromosomal abnormalities in 1,663 infertile men with azoospermia: the clinical consequences. Hum Reprod 32:25742580.CrossRefGoogle Scholar
Rohaye, J., et al. (2015) Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter’s syndrome. Andrology 3:868875.CrossRefGoogle Scholar
Gruchy, N., et al. (2011) Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome. Hum Reprod 26:25702575.CrossRefGoogle ScholarPubMed
Stefanidis, K., et al. (2011) Causes of infertility in men with Down syndrome. Andrologia 43:353357.Google Scholar
Xu, J., et al. (2017) Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos. PNAS 114:E8695E8702.CrossRefGoogle ScholarPubMed
Harton, G. L. and Tempest, H. G. (2012) Chromosomal disorders and male infertility. Asian J Androl 14:3239.Google Scholar
Zhang, W., et al. (2016) Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations. J Assist Reprod Genet 33:899906.Google Scholar
Tournaye, H., Krausz, C. and Oates, R. D. (2017) Novel concepts in the aetiology of male reproductive impairment. Lancet Diab Endocrinol 5:544553.CrossRefGoogle ScholarPubMed
Krausz, C., Cioppi, F. and Riera-Escamilla, A. (2018) Testing for genetic contributions to infertility: potential clinical impact. Exp Rev Mol Diag 18:331346.CrossRefGoogle ScholarPubMed
Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119124.Google Scholar
Krausz, C. and Casamonti, E. (2017) Spermatogenic failure and the Y chromosome. Hum Genet 136:637655.CrossRefGoogle ScholarPubMed
Krausz, C. (2011) Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 25:271285.CrossRefGoogle ScholarPubMed
Tyler-Smith, C. and Krausz, C. (2009) The Will-o’-the-Wisp of genetics: hunting for the azoospermia factor gene. N Engl J Med 360:925927.Google Scholar
Tournaye, H., Krausz, C. and Oates, R. D. (2017) Concepts in diagnosis and therapy for male reproductive impairment. Lancet Diab Endocrinol 5:554564.CrossRefGoogle ScholarPubMed
Flannigan, R. and Schlegel, P. N. (2017) Genetic diagnostics of male infertility in clinical practice. Best Pract Res Clin Obstet Gynaecol 44:2637.Google Scholar
Nathanson, K. L., et al. (2015) The Y deletion gr/gr and susceptibility to testicular germ cell tumor. Am J Hum Genet 77:10341043.Google Scholar
Krausz, C., Escamilla, A. R. and Chianese, C. (2015) Genetics of male infertility: from research to clinic. Reproduction 150(5):R159R174.Google Scholar
Tüttelmann, F., et al. (2011) Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS ONE 6:e19426.Google Scholar
Lopes, A. M., et al. (2013) Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet 9(3):e1003349.Google Scholar
Giacco, D. L., et al. (2014) Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility. J Med Gen 51:340344.CrossRefGoogle ScholarPubMed
Shen, Y., Yang, X., Xu, J. and Liu, Y. (2017) Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure. Biol Reprod 96(3):610616.Google Scholar
Mueller, J. L., et al. (2013) Independent specialization of the human and mouse X chromosomes for the male germ line. Nat Genet 45:10831087.CrossRefGoogle ScholarPubMed
Yatsenko, A. N., et al. (2015) X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. N Engl J Med 372:20972107.Google Scholar
Yang, F., et al. (2015) TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med 7:11981210.Google Scholar
Lee, A., et al. (2016) Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 85:158180.Google Scholar
De la Chapelle, A., et al. (1964) XX sex chromosomes in a human male. J Int Med 175:2538.Google Scholar
Chakraborty, P. P., Bhattacharjee, R., Roy, A., Mukhopadhyay, S. and Chowdhury, S. (2016) Male factor infertility: clues to diagnose 46, XX Male. J Obstet Gynaecol India 66:662665.Google Scholar
Röpke, A. and Tüttelmann, F. (2017) Mechanisms in endocrinology: aberrations of the X chromosome as cause of male infertility. Eur J Endocrinol 177:R249R259.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×