Abstract
Clinical evaluation for genetic abnormalities is at the crossroads of investigational and practical patient management. Whereas scientific investigation begs for further evaluation of the likely genetic anomalies that underlie many cases of male infertility, clinical testing and consultation must, wherever possible, be practical and directed toward optimizing patient outcome. Men with congenital obstructive azoospermia as well as patients with severely defective spermatogenesis will commonly have identifiable genetic abnormalities. Men with bilateral congenital absence of the vas deferens are commonly cystic fibrosis (CF) carriers, and their female partner should be tested for CF gene mutations before conception. Severely defective spermatogenesis may reflect a karyotypic abnormality or partial deletion of the Y chromosome. Detection of Y microdeletions or specific chromosome anomalies may affect the chance of sperm retrieval in azoospermic men, whereas it appears that the use of sperm from men with genetic abnormalities does not affect intracytoplasmic sperm injection outcomes. Specific genetic testing is warranted for certain subsets of infertile men. Other genetic tests (sperm DNA integrity testing, sperm aneuploidy analysis) are being evaluated and may prove to be clinically useful in the future.
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Schlegel, P.N. (2007). Clinical Evaluation of the Genetics of Male Infertility. In: Carrell, D.T. (eds) The Genetics of Male Infertility. Humana Press. https://doi.org/10.1007/978-1-59745-176-5_21
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DOI: https://doi.org/10.1007/978-1-59745-176-5_21
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