MALE INFERTILITY 1943

Genetic Counseling in a Patient With XXYKXXYKY Mosaic Minefelter's Syndrome: Estimate of

R. KRUSE, M. GUITENBACH, B. SCHARTMANN, R. SCHLIBERT, H. VAN DER VEN, M. SCHMID AND P. PROPPING,

Fertil. Steril., 6 9 482-485, 1998 Objective: To report the sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's

syndrome before ICSI. Design: Case report. Setting: Institute of Human Genetics, University Hospital Patient(s): A patient with an XXYKXXYKY mosaic Klinefelter's syndrome and extreme oligozoospermia. Interventionb): Skin biopsy, buccal smear, hair root sampling, and semen sampling. Main Outcome Measure(s): The karyotypes of three additional somatic cell systems and the ratio of sex

chromosome aberrations in sperm. Result(s): After two-color fluorescence in situ hybridization of 202 interphase sperm nuclei, both the

proportion of hyperhaploid 24,XY and 25,XXY sperm (5.0% and 0.5%, respectively) and of hyperhaploid 24,XX sperm (2.0%) were elevated. In contrast with peripheral lymphocytes, 93.9% of which showed sex chromosome aberrations, in the present patient only 7.5% of sperm proved to be hyperhaploid with an extra sex chromosome.

Conclusion(s): The determination of sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome may provide additional information to estimate the transmission risk to his off- spring.

Editorial Comment: These 2 studies document how far we have progressed in the field of assisted reproductive technology during the last decade. Most men with Klinefelter's syndrome (47, XXY) are sterile except for the rare mosaic patient with normal spermatogenesis. Yet, even some nonmosaic Klinefelter's syndrome patients can now become fathers with a combination of testicular sperm extraction and intracytoplasmic sperm injection. However, Kruse et al caution that a small but significant number of sperm produced by these patients are hyperhaploid (24,XY or 24,XX). Thus, it is important to counsel these couples of the genetic risks of these procedures and offer it in a setting where preimplantation genetic diagnosis is available to select the best embryos for transfer.

Jonathan P. Jarow, M.D.

Sex Chromosome Aberrations in Sperm Before Intracytoplasmic Sperm Injection

University of Bonn, Bonn and University of Wiirzburg, Wurzburg, Germany

Sperm Deoxyribonucleic Acid Fragmentation is Increased in Poor-Quality Semen Samples and Correlates With Failed Fertilization in Intracytoplasmic Sperm Injection

S . LOPES, J.-G. SUN, A. JURISICOVA, J. MERIANO AND R. F. CASPER, Division of Reproductive Sciences, Depart- ment of Obstetrics and Gynecology, University of Toronto and Toronto Center for Advanced Reproductive Technology, Toronto, Ontario, Canada

Fertil. Steril., 6 9 528-532, 1998 Objective: To determine the incidence of DNA fragmentation in human sperm used for intracytoplasmic

sperm injection (ICSI) and to correlate any detected DNA damage with semen analysis parameters and fertilization rates in ICSI.

Design: Descriptive and correlational clinical study. Setting: Tertiary care fertility clinic. Patient(s): A total of 150 semen samples was collected from men in the ICSI program. Interventionb): For each sample, sperm wash and swim-up were performed, and the percentage of

recovered sperm with DNA fragmentation was determined with the use of terminal transferase-mediated deoxyuridine triphosphate-biotin end labeling.

Main Outcome Measure(s): The percentage of sperm with DNA fragmentation was correlated with semen analysis parameters and ICSI fertilization rates.

Result(s): The mean (5SD) percentage of sperm with fragmented DNA was 14.5% +- 1.5% and ranged from 0.5% to 75%. A significant negative association was found between the percentage of sperm with DNA fragmentation and the ICSI fertilization rate. We also observed that the motility and morphology of the ejaculated sperm were correlated negatively with the percentage of DNA fragmentation in the washed sperm recovered by the swim-up technique.

Conclusion(s): Our results suggest that when poor-quality semen samples are used for ICSI, there is a greater likelihood that some sperm selected for injection, despite appearing normal, contain fragmented DNA. Whether sperm DNA damage may contribute to failure of pronuclear formation and embryo devel- opment in some apparently unfertilized ICSI oocytes is unclear.