O-140 studying the effect of mosaicism on the outcome of micro-TESE among Klinefelter syndrome patients

Abstract

Abstract Study question Does mosaicism affect sperm retrieval rate in Klinefelter patients? Summary answer Patients with mosaic Klinefelter syndrome (KS) have a higher success rate of sperm retrieval than those with non-mosaic KS. What is known already Klinefelter syndrome is characterised by the presence of an extra X chromosome in male individuals leading to a 47XXY karyotype and rarely to 46XY/47XXY Mosaicism; it is the most common sex chromosomal aneuploidy and the most common genetic cause of Azoospermia (Kanakis GA et al., 2018 and Gravholt CH et al.,2018). It accounts for 3–4% of male infertility cases and 10–12% of men with Azoospermia (Winters SJ,2018). Study design, size, duration After approval of the ethical committee of the faculty of medicine at Cairo University, This prospective study was conducted where 70 men who complained of primary infertility and azoospermia and were diagnosed with Klinefelter Syndrome were recruited for this study between 1/11/2021 and 30/11/2022. Patients with previous testicular disease (torsion, trauma) or who had a history of undescended testes or received chemotherapy or radiotherapy were excluded. Participants/materials, setting, methods Seventy patients (n = 70) aged between 20 and 50 who fit the inclusion criteria were recruited and underwent micro_TESE. Semen analysis (Azoospermia), hormonal profile, scrotal colour doppler ultrasonography, Karyotyping and FISH for Y and X chromosomes were performed. Statistical analysis was conducted using SPSS 22nd edition. Main results and the role of chance Our study groups comprised 14 patients with mosaic KS and 56 with non-mosaic KS. The clinical characteristics were not significantly different statistically between the two groups. Micro_TESE was performed in all 70 patients; in 26 patients (37.1%), mature sperm were found in the wet preparation. No statistically significant correlation was found between the presence of spermatozoa in the extraction specimen and age, serum follicle-stimulating hormone, serum testosterone, prolactin or oestradiol. The statistically significant predictor variable for sperm extraction was mosaicism, luteinising hormone, testicular volume and FISH. The sperm retrieval rate of the patients with mosaic and non-mosaic KS was 57.1% and 32.1%, respectively. Limitations, reasons for caution 1) Larger (n) number of patients was needed. 2) Despite our valuable findings, further studies should be performed to illuminate the relation between FISH for X and Y chromosomes and sperm retrieval rate success. Wider implications of the findings Klinefelter patients with mosaicism should be offered high sperm retrieval rate during IVF counselling. Trial registration number n/a