Hum. Reprod. Advance Access originally published online on July 22, 2006
Human Reproduction 2006 21(12):3171-3177; doi:10.1093/humrep/del281
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Synaptic defects at meiosis I and non-obstructive azoospermia
1 School of Molecular Biosciences, Washington State University, Pullman, WA 2 Department of Genetics and The Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 3 Department of Genetics, University of Chicago, Chicago, IL 4 Department of Urology, Case Western Reserve University and University Hospitals of Cleveland, Cleveland VA Medical Center and 5 Glickman Urological Institute, Cleveland Clinic Foundation, Cleveland, OH, USA
6 To whom correspondence should be addressed at: School of Molecular Biosciences, Washington State University, 540 Fulmer Hall, Pullman, WA 99164, USA. E-mail: dtopping{at}wsu.edu
BACKGROUND: Recent advances in immunofluorescence methodology have made it possible to directly monitor protein localization patterns in germ cells undergoing meiosis. We used this technology to examine the early stages of meiosis in testicular material obtained from men presenting for evaluation at infertility clinics. METHODS: Specifically, we compared meiotic progression, synapsis and recombination in 34 individuals with obstructive azoospermia (‘controls’) to 26 individuals with non-obstructive azoospermia (NOA) (‘cases’). RESULTS: In 9 of the 26 cases, no germ cells were identified, but in the remaining 17, there was at least some progression through meiosis. Most of these individuals appeared to have normal levels of spermatogenic activity, with little evidence of meiotic impairment. However, in three individuals, we observed either complete or partial meiotic arrest associated with abnormalities in synapsis. CONCLUSIONS: This suggests that >10% of cases of unexplained NOA may be attributable to severe meiotic defects. The characterization of these meiotic arrest phenotypes may guide further research into the molecular basis of unexplained infertility.
Key words: meiotic arrest/MLH1/non-obstructive azoospermia/recombination/SCP3
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