Sperm Retrieval, Fertilization Rates, and Clinical Outcomes of Infertile Men with Y Chromosome Microdeletion

Jenna Baffa,Gilad Karavani,Bader Akroof,Mohamed S. Kattan,Susan Lau,Keith JarviTop Scholar

Canadian Urological Association Journal（2024）

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Abstract

Introduction: In this study, we aimed to explore whether a Y chromosome microdeletion (YCM) confers adverse effects on surgical sperm retrieval potential and intracytoplasmic sperm injection (ICSI) outcomes in men with azoospermia and severe oligospermia. Methods: This was a retrospective cohort study, which included infertile men with azoospermia or severe oligospermia who were evaluated for karyotype analysis and YCM testing at a university-affiliated hospital between 2010 and 2022. Outcomes of microdissection testicular sperm extraction (mTESE) for surgical sperm retrieval were compared between men diagnosed with YCM and the control group in which no YCM were found. Additionally, patients from each group who underwent in-vitro fertilization (IVF) — ICSI cycle using ejaculated sperm or surgically retrieved mature spermatozoa were compared regarding their IVF-ICSI cycle outcomes — fertilization rates, cleavage, and blastocyst formation and clinical pregnancy rates. Results: A total of 116 azoospermic and oligospermic men who underwent Y chromosome microdeletion testing were included in the study: 19 men with YCM and 97 controls without YCM. Overall, nine mTESE procedures were performed for patients with YCM and 38 mTESE procedures were done on men from the control group. There were no significant differences between the YCM and control groups in mature sperm retrieval rates (11.1% vs. 26.3% p=0.663), though a trend towards higher rates of findings of elongated and round spermatids as the most mature germ cell was noted in the YCM group (66.7% vs. 28.9%, p=0.054). Out of the 13 men with mature sperm — either ejaculated or surgically retrieved (mTESE) —that had known ICSI cycle outcomes, three men had proven YCMs and 10 controls had no identified YCMs. Basic characteristics were similar between the groups, except for testosterone levels, which were higher in the YCM group (23.0±13.1 vs. 9.4±6.4 nmol/L, p=0.027). Fertilization rates and cleavage rates were similar between the YCM and control groups (42.3% vs. 49.7% and 42.3% vs. 39.3%, p=0.491 and 0.774, respectively). Blastocyst formation rates, and pregnancy rates, while not statistically significant, showed a trend for favorable outcomes in the control group compared to the YCM group (24.1% vs. 7.7%, 72.7% vs. 20.0%, p=0.078 and 0.106, respectively). Conclusions: Y chromosome microdeletion does not affect sperm retrieval rates. Fertilization and cleavage rates are not impaired by microdeletions, while blastocyst formation rates and clinical pregnancy rates per embryo transfer follow a non-significant trend for unfavorable outcomes in the YCM group. Clinical and embryonic development results should be interpreted with caution, as these groups are relatively small.

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【要点】：本研究探讨了Y染色体微缺失是否对无精子或严重少精子男性的手术取精潜力和卵胞浆内单精子注射（ICSI）结果产生不利影响，发现Y染色体微缺失并不影响取精率，但可能对囊胚形成率和临床妊娠率产生不利趋势。

【方法】：采用回顾性队列研究方法，对2010年至2022年间在一家大学附属医院接受核型分析和Y染色体微缺失检测的不育男性进行了研究。

【实验】：共116名无精子或严重少精子男性参与研究，其中19名患有Y染色体微缺失，97名为对照组。在Y染色体微缺失组进行了9次显微取精手术，对照组进行了38次。Y染色体微缺失组与对照组在成熟精子取回率上无显著差异（11.1% vs. 26.3%），但Y染色体微缺失组中观察到长形和圆形精子细胞的比例更高（66.7% vs. 28.9%）。在已知ICSI周期结果的13名男性中，3名患有Y染色体微缺失，10名为对照组。两组的受精率和分裂率相似，而囊胚形成率和临床妊娠率在对照组中表现更佳的趋势，但未达到统计学显著性。所使用的数据集名称未在文中提及。

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