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.