Reproductive Phenotypes and Assisted Reproductive Outcomes in Vietnamese Men With 47,XYY: A Retrospective Cohort Study

Objective: This study aimed to describe the clinical characteristics, reproductive function, and reproductive outcomes of men with a 47,XYY karyotype. Materials and Methods: This retrospective study was conducted at the Andrology and Fertility Hospital of Hanoi, Vietnam. The cohort included 22 men: 21 with non-mosaic 47,XYY and one with mosaic 46,XY/47,XYY. Data included semen analyses, reproductive hormone profiles, sexual function assessments using the International Index of Erectile Function and Premature Ejaculation Diagnostic Tool (PEDT), microdissection testicular sperm extraction and testicular histology findings, and reproductive outcomes after natural conception or assisted reproductive technology (ART). Results: The cohort comprised 21 men with non-mosaic 47,XYY and one with mosaic 46,XY/47,XYY. The mean age was 31.4 ± 4.0 years; the mean right and left testicular volumes were 9.86 ± 3.67 mL and 9.62 ± 3.50 mL, respectively. Small testes (<8 mL) were observed in 7/22 patients (31.8%), and varicocele was noted in 4/22 patients (18.2%), all in the non-mosaic group. Primary infertility was present in 18/22 patients (81.8%) with available fertility data. Erectile function was preserved in all patients, and 21/22 (95.5%) had PEDT scores ≤8. Among the 21 non-mosaic patients, 14 underwent in vitro fertilization with or without intracytoplasmic sperm injection (IVF/ICSI), resulting in nine live births after 19 embryo transfers; four also achieved spontaneous live births. The single mosaic patient had severe oligoasthenoteratozoospermia and achieved a live birth after one IVF/ICSI cycle and the first embryo transfer. Conclusion: Men with 47,XYY show heterogeneous reproductive phenotypes. Spermatogenic function substantially varies, whereas sexual function is usually preserved. ART, particularly IVF/ICSI, can result in favorable reproductive outcomes in this population.