Objective: To report the birth of healthy twin males after the use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome.
Design: Case report.
Setting: Private reproduction center with university affiliation.
Patient(s): A couple undergoing intracytoplasmic sperm injection (ICSI) combined with testicular sperm extraction because of the husband's secretory azoospermia and a nonmosaic 47,XXY peripheral blood karyotype. The wife, a healthy female, presented with a history of oligomenorrhea.
Intervention(s): ICSI was performed using testicular spermatozoa; 3 mM pentoxifylline solution was used to induce sperm motility because the spermatozoa recovered were all immotile.
Main outcome measure(s): Normal fertilization, embryo cleavage, pregnancy outcome, and peripheral blood karyotype of the newborns.
Result(s): Thirteen metaphase II oocytes were injected. Seven of them fertilized normally and six did not fertilize. Three good-quality embryos (4-cell stage class II) were transferred, and four were cryopreserved at the two-cell and four-cell stages using a slow freezing protocol. Twelve days after ET, a beta-hCG determination was positive. Ultrasonographic examination revealed three intrauterine fetal sacs, but one of them showed a fetal pole without cardiac activity and vanished in subsequent ultrasonographic examinations. The patient delivered twins with normal male peripheral blood karyotypes.
Conclusion(s): Normal outcome after the use of testicular sperm extraction and ICSI in a nonmosaic patient with Klinefelter's syndrome reaffirms the notion of low transmission risk of this gonosomal aneuploidy.