Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review

OBJECTIVE: To report a case of abortion after intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa obtained from a man with mosaic Klinefelter’s syndrome. METHODS: Sperm nuclei from the patient were analyzed by fluorescence in situ hybridization, and the disomy frequencies for chromosome 18 and the sex chromosomes were determined. A literature review of the ICSI outcome of ejaculated sperm in patients with Klinefelter’s syndrome was also performed. RESULTS: A total of 108 spermatozoa nuclei were analyzed. Of these, 102 sperm cells were normal with an X18 (55.56%) or Y18 (38.89%) chromosome pattern. Three cells with XX18 (2.78%) and three cells with YY18 (2.78%) signals were detected. The fetus stopped developing in the eighth week. The karyotype determined by an analysis of the abortive tissue was 46, XY. The literature review identified a total of 12 patients who were analyzed in 11 reports. The fertilization rate was 80.9%, and the live birth rate per transfer was 71.4%. CONCLUSIONS: ICSI with ejaculated spermatozoa from men with Klinefelter’s syndrome can lead to pregnancy, for which the risk of transmission of chromosomal aneuploidy is low.