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Chapter 8 - Genetics of Human Male Infertility: The Quest for Diagnosis and Treatment

Published online by Cambridge University Press:  15 December 2022

By
Stéphane Viville  and
Özlem Okutman
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 World Health Organization (WHO) defines infertility as the inability to conceive within 12 months despite regular unprotected intercourse, a condition that concerns about 10–15% of couples globally. Infertility is considered as primary or secondary depending on whether a couple has experienced a prior pregnancy or not.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 116 - 131
Publisher: Cambridge University Press
Print publication year: 2023

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References

Krausz, C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011;25(2):271–85.CrossRefGoogle ScholarPubMed
Searle, AG, Beechey, CV, Evans, EP. Meiotic effects in chromosomally-derived male sterility of mice. Ann Biol Anim Biochim Biophys 1978;18(2B):391–8.Google Scholar
Gordon, UD. Assisted conception in the azoospermic male. Hum Fertil (Camb) 2002;5(1 Suppl):S9–S14.Google Scholar
Matzuk, MM, Lamb, DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008;14(11):1197–213.Google Scholar
Majewski, J, Schwartzentruber, J, Lalonde, E, Montpetit, A, Jabado, N. What can exome sequencing do for you? J Med Genet 2011;48(9):580–9.Google Scholar
Matthijs, G, Souche, E, Alders, M, et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 2016;24(1):2–5.Google Scholar
Plon, SE, Eccles, DM, Easton, D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29(11):1282–91.CrossRefGoogle ScholarPubMed
Song, H, Wang, L, Chen, D, Li, F. The function of pre-mRNA alternative splicing in mammal spermatogenesis. Int J Biol Sci 2020;16(1):38–48.Google Scholar
Hellwinkel, OJ-C, Holterhus, P-M, Struve, D, et al. A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants. J Clin Endocrinol Metab 2001;86(6):2569–75.Google ScholarPubMed
Kherraf, Z-E, Conne, B, Amiri-Yekta, A, et al. Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility. Mol Cell Endocrinol 2018;468:70–80.Google Scholar
Okutman, Ö, Demirel, C, Tülek, F, et al. Homozygous splice site mutation in ZP1 causes familial oocyte maturation defect. Genes (Basel) 2020;11(4):382. DOI 10.3390/genes11040382Google Scholar
Oud, MS, Volozonoka, L, Smits, RM, et al. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod 2019;34(5):932–41.Google Scholar
Froyen, G, Broekmans, A, Hillen, F, et al. Validation and application of a custom-designed targeted next-generation sequencing panel for the diagnostic mutational profiling of solid tumors. PLoS One 2016;11(4):e0154038.CrossRefGoogle ScholarPubMed
Huijsmans, R, Damen, J, van der Linden, H, Hermans, M. Single nucleotide polymorphism profiling assay to confirm the identity of human tissues. J Mol Diagn 2007;9(2):205–13.Google Scholar
Jennings, LJ, Arcila, ME, Corless, C, et al. Guidelines for validation of next-generation sequencing-based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn 2017;19(3):341–65.Google Scholar
Cooper, TG, Noonan, E, von Eckardstein, S, et al. World Health Organization reference values for human semen characteristics. Hum Reprod Update 2010;16(3):231–45.Google Scholar
Okutman, O, Rhouma, MB, Benkhalifa, M, Muller, J, Viville, S. Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet 2018;35:1939–51.Google Scholar
de Souza, DAS, Faucz, FR, Pereira-Ferrari, L, Sotomaior, VS, Raskin, S. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology 2018;6(1):127–35.Google Scholar
Ravel, C, Berthaut, I, Bresson, JL, Siffroi, JP, Genetics Commission of the French Federation of CECOS. Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes. Hum Reprod 2006;21(6):1484–9.Google Scholar
Krausz, C, Hoefsloot, L, Simoni, M, Tüttelmann, F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2014;2(1):5–19.Google Scholar
Krausz, C, Quintana-Murci, L, McElreavey, K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000;15(7):1431–4.Google Scholar
Soares, AR, Costa, P, Silva, J, et al. AZFb microdeletions and oligozoospermia: which mechanisms? Fertil Steril 2012;97(4):858–63.Google Scholar
Okutman, O, Muller, J, Baert, Y, et al. Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Hum Mol Genet 2015;24(19):5581–8.Google Scholar
Araujo, TF, Friedrich, C, Grangeiro, CHP, et al. Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Andrology 2020;8(2):434–41.CrossRefGoogle ScholarPubMed
Koscinski, I, Elinati, E, Fossard, C, et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet 2011;88(3):344–50.Google Scholar
Elinati, E, Kuentz, P, Redin, C, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet 2012;21(16):3695–702.Google Scholar
Dam, AHDM, Koscinski, I, Kremer, JAM, et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 2007;81(4):813–20.Google Scholar
Kuentz, P, Vanden Meerschaut, F, Elinati, E, et al. Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status. Hum Reprod 2013;28(4):1054–61.CrossRefGoogle ScholarPubMed
Liu, C, He, X, Liu, W, et al. Bi-allelic mutations in TTC29 cause male subfertility with asthenoteratospermia in humans and mice. Am J Hum Genet 2019;105(6):1168–81.Google Scholar

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