Human Reproduction, Vol. 18, No. 8, 1660-1665,
August 2003
© 2003 European Society of Human Reproduction and Embryology
Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions
1 Center for Male Reproductive Medicine and Microsurgery, Cornell Institute for Reproductive Medicine and Department of Urology, New York Weill–Cornell Medical Center, 525 East 68th Street, Starr 900, New York, NY 10021, 2 Population Council, Center for Biomedical Research, 1188 York Avenue, Room 514, New York, NY 10021 and 3 Center for Reproductive Medicine and Infertility, New York Weill–Cornell Medical Center, 505 East 70th Street, HT-340, New York, NY 10021, USA
4 To whom correspondence should be addressed at: New York Weill–Cornell Medical Center, 525 East 68th Street, Starr 900, New York, NY 10021, USA. e-mail: pnschleg{at}med.cornell.edu
BACKGROUND: Y chromosome microdeletions are associated with severe male factor infertility. In this study, the success rate of testicular sperm retrieval was determined for men with deletions of AZF regions a, b or c. METHODS: AZF deletions were detected by PCR of 30 sequence-tagged sites within Yq emphasizing the AZFa, b and c regions. Semen analysis and diagnostic testis biopsy or testicular sperm extraction (TESE) findings were correlated with the specific AZF region deleted. RESULTS: A total of 78 men with AZF deletions included three with AZFa deletion, 11 with AZFb, 42 with AZFc, 16 with AZFb+c and six with Yq (AZFa+b+c). All men with AZFa, AZFb, AZFb+c and Yq deletions were azoospermic and no sperm were found with TESE or biopsy. Of men with isolated AZFc deletion, sperm were found in 75% (9/12) by TESE and 45% (9/20) on biopsy (56% overall); 62% (26/42) were azoospermic and 38% (16/42) severely oligozoospermic. A total of 7 patients with deletion patterns that included the complete AZFa region and 23 that included the complete AZFb region who underwent TESE or biopsy did not have sperm detected by these surgical measures. CONCLUSIONS: Microdeletion of the entire AZFa or AZFb regions of the Y chromosome portends an exceptionally poor prognosis for sperm retrieval, whereas the majority of men with AZFc deletion have sperm within the semen or testes available for use in IVF/ICSI.
Key words: AZF/genetics/male infertility/spermatogenesis/Y chromosome
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