Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men

Objective To determine gonosomal and autosomal aneuploidy rate in sperm and preimplantation embryos from nonmosaic 47,XYY males. Design Sperm and blastomere analysis by fluorescence in situ hybridization. Setting Fertility clinic, academic hospital. Patient(s) Two 47,XYY men undergoing preimplantation genetic diagnosis (PGD) and eight 46,XY males distributed in two control groups (fertile and infertile). Intervention(s) Sperm-sample collection for fluorescence in situ hybridization and PGD. Main Outcome Measure(s) Aneuploidy frequencies for chromosomes X, Y, 13, 16, 18, 21, and 22 in sperm and embryos. Result(s) Patients with 47,XYY presented global sperm gonosomal and autosomal aneuploidy frequency of 37.23%–37.80%, with XY disomy being the most frequent abnormality (16.70%–19.01%). This aneuploidy rate was statistically significantly different from that found in both 46,XY infertile controls (1.07%) and 46,XY fertile controls (1.04%). In total, 47 preimplantation embryos were analyzed, of which 32 were classified as normal (68%) and 15 as aneuploid (32%). Among the abnormal embryos, 9 presented gonosomal abnormalities, and 6, autosomal abnormalities. Conclusion(s) High rate of gonosomal and autosomal aneuploidy was observed in sperm and preimplantation embryos from nonmosaic 47,XYY males. The offspring of this category of patients may be at higher risk of chromosomal abnormalities, and therefore PGD can be suggested to these patients.