Abstract

The purposes of this study were to evaluate the potential for testicular sperm extraction (TESE) from azoospermic patients with non-mosaic Klinefelter's syndrome and to determine the outcome of intracytoplasmic sperm injection (ICSI) using the extracted testicular sperm sample. Fourteen couples suffering from primary infertility in which the male partner had the azoospermic non-mosaic 47,XXY karyotype (Klinefelter's syndrome) participated in this study. All of the women underwent controlled ovarian hyperstimulation. Open testis biopsies were conducted 1 day prior to or on the day of oocyte retrieval. Motile sperm, extracted from the biopsied tissues in a wet preparation, were used for ICSI. The outcome of ICSI was evaluated from the fertilization rate, embryo-cleavage rate, clinical pregnancy rate, and chromosomal status of resultant fetuses or delivered babies. Sperm retrieval was successful in eight of 14 patients (sperm retrieval rate, 57%). In total, 118 mature oocytes were injected with extracted motile spermatozoa. This resulted in the production of 70 fertilized oocytes (fertilization rate, 59%) and 67 embryos (cleavage rate, 96%). Among the eight women who underwent embryo transfer, six achieved clinical pregnancies (clinical pregnancy rate, 75%). The outcome of these pregnancies included one blighted ovum and the birth of four male and five female healthy babies. The live delivery rate was 62.5%. All of these babies were chromosomally and physiologically normal. This study demonstrates that azoospermic patients suffering from non-mosaic Klinefelter's syndrome can father their own genetic offspring when the TESE procedure is combined with ICSI and embryo transfer techniques.

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