Korean J Fertil Steril Search


Korean Journal of Fertility and Sterility 1999;26(2):293-296.
Published online January 1, 2001.
A Case of Azoospermia Associated with Yq Deletion.
Y S Nam, H J Kim, S H Lee, I P Kwak, T K Yoon, K Y Cha
Different Y mutation in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11 by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males (5~20%) may indicate a need for a general screening programme for its analysis in infertility clinic. We have experienced a case of deletion distal to Yq11 region in azoospermic patient. So we report this case with a brief review of literatures.


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