Hong Kong Med J 2009;15:31-8 | Number 1, February 2009
Chromosomal anomalies and Y-microdeletions among Chinese subfertile men in Hong Kong
Paulina PY Ng, Mary HY Tang, Elizabeth T Lau, Lucy KL Ng, Ernest HY Ng, PC Tam, William SB Yeung, PC Ho
Department of Obstetrics and Gynaecology, The University of Hong Kong, Tsan Yuk Hospital and Queen Mary Hospital, Hong Kong
OBJECTIVE. To report the type and frequency of chromosomal anomalies and Y-microdeletions among Hong Kong Chinese subfertile men with sperm concentrations lower than 5 million/mL.
DESIGN. Retrospective study.
SETTING. A reproductive centre in Hong Kong.
PARTICIPANTS. A total of 295 Chinese subfertile men who underwent both karyotyping and Y-microdeletion studies from 2000 to 2007 were categorised as having non-obstructive azoospermia (n=71), very severe oligospermia (sperm concentration >0 and 2 and
MAIN OUTCOME MEASURES. Karyotyping and Y-microdeletion studies.
RESULTS. The prevalence of chromosomal anomalies and Y-microdeletions in the study population were 8.5% (25/295; 95% confidence interval, 5.6-12.3%) and 6.4% (19/295; 3.9-9.9%), respectively. The total prevalence of chromosomal anomalies and Y-microdeletions was 13.2% (39/295; 95% confidence interval, 9.6-17.6%) as five cases of non-obstructive azoospermia showed both Y structural alterations and AZFbc deletion. The corresponding figures for chromosomal anomalies in the groups with non-obstructive azoospermia, very severe oligospermia, and severe oligospermia were 21.1% (15/71; 95% confidence interval, 12.3-32.4%), 5.7% (9/158; 2.6-10.5%), and 1.5% (1/66; 0.0-8.2%). While for Ymicrodeletions they were 8.5% (6/71; 3.2-17.5%), 8.2% (13/158; 4.5-13.7%) and 0% (0/66; 0.0-4.4%), respectively. The respective overall prevalence rates for chromosomal anomalies and Y-microdeletions in these groups were: 22.5% (16/71; 13.5-34.0%), 13.9% (22/158; 8.9-20.3%), and 1.5% (1/66; 0.0-8.2%).
CONCLUSIONS. Our findings strongly support the recommendation for both karyotyping and Y-microdeletion analyses in subfertile men with sperm concentrations of 2 million/mL or lower before they undergo assisted reproduction treatment.
Key words: Chromosome deletion; Chromosome, human, Y; Infertility, male
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