Abstract Study question This retrospective study aims to identify the embryo development and clinical outcomes in non-mosaic Klinefelter syndrome patients treated with microTESE-ICSI Summary answer Non-mosaic Klinefelter patients can retrieve their sperm using microTESE and can have their biological offsprings by combining microTESE with ICSI What is known already Klinefelter syndrome patients are classified into two main groups, namely non-mosaic Klinefelter (47, XXY) and mosaic Klinefelter (46, XY/47, XXY). To retrieve sperm from non-mosaic Klinefelter, microTESE is a crucial treatment that yields a successful rate of approximately 50%. Recent research reports that microTESE-ICSI is a treatment regime that brings a higher in-vitro fertilization (IVF) success rate for those with non-mosaic Klinefelter syndrome. However, most of the previous studies on this group focuses on sperm retrieval rate and male factors. Few studies have reported embryo development and clinical outcomes, especially, under the adjustment for female partner’s age and oocyte quantity Study design, size, duration This retrospective study was conducted to evaluate spermatozoa retrieval, embryo development, and clinical outcomes in 931 patients with microTESE treatment at Andrology and Fertility Hospital of Hanoi from 6/2019 to 9/2022. Patients were divided into two groups including 118 patients with non-mosaic Klinefelter syndrome (KS) and 813 patients without Klinefelter syndrome (non-KS). Participants/materials, setting, methods In 931 patients, 63 KS and 417 non-KS had spermatozoa retrieved from microTESE were carried out ICSI. In ICSI group, 59 KS and 319 non-KS patients whose partners were under 35 years old were selected to compare embryological and clinical outcomes. Outcomes included fertilization rate, day 3 usable embryo rate, usable blastocyst rate, pregnancy rate (positive beta-hCG test), biochemical pregnancy rate, ongoing pregnancy, and live-birth rate (calculated on the total number of IVF cycles). Main results and the role of chance Spermatozoa retrieval rate by microTESE in the KS group was 53.4% (63/118), while this rate in the non-KS group was 51.2% (417/813) (p > 0.05). The mean age of female partners was significantly lower in the KS group than in non-KS group (26.6 ± 4.0 vs. 28.0 ± 3.5; p = 0.006). The mean of mature oocytes between these two groups was similar (15.7 ± 8.1 vs 14.5 ± 7.2; p > 0.05). Fertilization rates in KS and non-KS groups were 62.7% and 65.3%, respectively. Day 3 usable embryo rate (embryo with over 6 blastomeres at day 3) in two groups was not significantly different (69% vs 69.5%, p > 0.05). Usable blastocyst rate (embryo quality is over 2BB, Gardner grading system) in the KS group (19.9%, n = 54) was significantly lower than in non-KS group (41.1%, n = 281) (p < 0.001). Pregnancy rate and biochemical pregnancy rate were 75.9% and 6.9% in KS group (n = 58), respectively. Those rates were 81.5% and 3.2% in non-KS group (n = 313), respectively. There was no significant difference in ongoing pregnancy rate between these two groups (61.1% vs 74.5%; p > 0.05). Live-birth rate in the KS group was 43.2% (16/37), while this rate in the non-KS group was 46.5% (67/145). Limitations, reasons for caution This research had limitations of a retrospective study. Male hormonal factors and baby health could not be thoroughly measured because of difficulties in contact with patients at the time of the study. Besides, day 3 top-quality embryos were directed to freeze, so usable blastocyst rate was low in this study. Wider implications of the findings These data confirmed that microTESE provides opportunities for non-mosaic Klinefelter syndrome patients to retrieve their own sperm. Combination of microTESE and ICSI is an effective treatment regimen that helps these patients to have their own usable embryos and babies. Trial registration number not applicable
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