Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience

• Published in: Journal of assisted reproduction and genetics 2011-11, Vol.28 (11), p.1091-1098
• Main Authors: Hofherr, Sean E., Wiktor, Anne E., Kipp, Benjamin R., Dawson, D. Brian, Van Dyke, Daniel L.
• Format: Article
• Language: English
• Subjects: Abnormal Karyotype; Adolescent; Adult; Age; Azoospermia - genetics; Chromosome Deletion; Chromosomes; Chromosomes, Human, Y - genetics; Cytogenetic Analysis - methods; Cytogenetics; Diagnostic tests; Fertility; Genetic screening; Genetics; Gynecology; Human Genetics; Humans; Infertility; Infertility, Male - diagnosis; Infertility, Male - genetics; Klinefelter Syndrome - diagnosis; Klinefelter's syndrome; Laboratories; Male; Males; Medicine; Medicine & Public Health; Oligospermia - diagnosis; Pathology; Reproduction; Reproductive Medicine; Retrospective Studies; Reviews; Sex chromosomes; Sperm; Spermatozoa - cytology; Y chromosomes
• ISSN: 1058-0468; 1573-7330
• DOI: 10.1007/s10815-011-9633-6

Purpose Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up to 25% of males with non-obstructive infertility have chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. These are detected by conventional chromosome and Y-microdeletion analysis. In this study, we reviewed the results of testing performed in the Mayo Clinic Cytogenetics and Molecular Genetics Laboratories and compared our findings with previously published reports. Methods This study includes 2,242 chromosome studies from males ≥18 years of age referred for infertility between 1989 and 2000 and 2,749 Y-deletion molecular studies performed between 2002 and 2009. Results 14.3% of infertile males tested by karyotyping had abnormalities identified. These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 3.6% of males tested for Y-microdeletion analysis had abnormalities identified, 90% of which included a deletion of the AZFc region. Conclusions This study highlights the need of males suffering from non-obstructive infertility to have laboratory genetic testing performed. An abnormal finding can have significant consequences to assisted reproductive techniques and fertility treatment, and provide a firm diagnosis to couples with longstanding infertility.