AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test

Authors: RA Brandell¹; A Mielnik²; D Liotta³; Z Ye³; LL Veeck³; GD Palermo³; PN Schlegel¹

Source: Human Reproduction, Volume 13, Number 10, October 1998 , pp. 2812-2815(4)

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Abstract:

Genetic abnormalities, including partial deletions of the Y-chromosome, are commonly detectable in men with non-obstructive azoospermia (NOA). NOA can be treated using testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI). Recent studies have shown that the presence of deletions involving the AZFc region do not appear to affect the chance of retrieving spermatozoa or have a significant impact on fertilization or pregnancy rates with ICSI. We investigated the effect of Y-chromosome partial deletions on the chance of sperm retrieval with TESE. Eighty attempts at sperm retrieval were performed using TESE on men who were previously evaluated for Y-chromosome partial deletions. Y-chromosome analysis was performed using a polymerase chain reaction (PCR)-based technique with 35 sequence-tagged-sites. Of the 80 men, nine (11%) had partial Y-chromosome deletions detected. Two azoospermic men with AZFc deletions had successful sperm retrieval, ICSI and a subsequent clinical pregnancy. Seven men had deletions involving the AZFb region (three men had isolated AZFb deletions, one had a AZFa, AZFb and AZFc deleted, and three had AZFb and AZFc deleted). None of the seven men had spermatozoa extracted by TESE, a result that is significantly different from the overall 64% (47/73) sperm retrieval rate achieved at our centre (P = 0.001). Two men with AZFb deletions had cells consistent with round spermatids identified and injected into oocytes without effecting any normal fertilizations. Although preliminary, these results suggest that the presence of an AZFb deletion is a significantly adverse prognostic finding for TESE. Men with AZFb deletions should be apprised of these results before attempting TESE-ICSI. Alternatives such as donor insemination or adoption should be considered or therapy delayed until improved results with round spermatid injections are likely.

Keywords:azoospermia/genetics/male infertility/microdeletion/Y-chromosome

Document Type: Research article

Affiliations: 1: James Buchanan Brady Foundation, Department of Urology, The New York Hospital-Cornell Medical Center, 525 East 68th Street, New York, NY, USA 2: The Population Council, Center for Biomedical Research and 3: The Center for Reproductive Medicine and Infertility, The New York Hospital-Cornell Medical Center, New York, NY 10021, USA

Publication date: 1998-10-01

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Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.

AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test

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