Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter's syndrome.

Objective: To report two births of a healthy male and a healthy female baby after use of testicular spermatozoa from two patients with nonmosaic Klinefelter's syndrome.

Design: Case report.

Setting: General academic hospital with IVF center and university institute of human genetics.

Patient(s): Two couples with primary infertility in which the men had secretory azoospermia and nonmosaic 47,XXY karyotype. Both women had a normal karyotype and no gynecologic abnormalities.

Intervention(s): ICSI was performed using testicular spermatozoa after ovarian stimulation and transvaginal ultrasonography-guided oocyte pick-up.

Main Outcome Measure(s): Normal fertilization, embryo cleavage, clinical pregnancy outcome, and peripheral blood karyotype of the newborn.

Result(s): In each case, 13 metaphase II oocytes were injected, of which 7 fertilized normally. Three good-quality embryos (4-cell stage) were transferred into the uterine cavity. Both women conceived, and normal pregnancies followed. Genetic analysis of the neonates revealed normal 46,XX and 46,XY karyotypes.

Conclusion(s): These case reports reaffirm that patients with nonmosaic Klinefelter's syndrome produce normal spermatozoa with fertilization potential. Although it is premature to make conclusions about the rate of transmission of this aneuploidy because of the low number of the published cases, this report substantiates the idea that rates of transmission of this gonosomal aneuploidy are low.