Abstract
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.
Original language | English (US) |
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Pages (from-to) | 1091-1098 |
Number of pages | 8 |
Journal | Journal of Assisted Reproduction and Genetics |
Volume | 28 |
Issue number | 11 |
DOIs | |
State | Published - Nov 2011 |
Keywords
- AZF
- Azoospermia
- Chromosome
- Karyotype
- Klinefelter syndrome
- Male infertility
- Oligozoospermia
- Y-microdeletion
ASJC Scopus subject areas
- Reproductive Medicine
- Genetics
- Obstetrics and Gynecology
- Developmental Biology
- Genetics(clinical)