P-079 Transcriptomic Analysis of Seminal Plasma in NOA Men as a Predictor of Successful Testicular Sperm Extraction

Abstract Study question Could transcriptomic profiling of semen ejaculate be used to predict successful testicular sperm retrieval for men with idiopathic non-obstructive azoospermia (iNOA)? Summary answer Transcriptomic analysis seminal plasma RNA in iNOA revealed gene imbalances that consistently correlated the success retrieving spermatozoa via a biopsy. What is known already Although microdissection extraction (m-TESE) NOA results about 60% cases, it difficult which cases will fail recover sperm. While several algorithms have been proposed make this prediction, such as age, serum FSH, inhibin B, and genetics, there no one factor can do so reliably. Even histopathology fails more accurate, equally invasive. Recently, epigenetic on biopsy specimens has shown differential expression relation origin spermatogenic function. design, size, duration Over 3-year period, 23 diagnosed underwent repeated extensive analyses were deemed azoospermic. These patients categorized based whether subsequently retrieved (+Sperm) or not (-Sperm) at micro-TESE. was performed by RNAseq, significant differentially expressed (DEG) profiles assessed compared between two cohorts. DNAseq then confirm our findings. Participants/materials, setting, methods DNA isolated from using commercially available spin column kit sequenced Illumina HiSeq 3000/4000 platform 2x150bp. carried out comparison fertile donor control among An absolute log2fold change > 1 P-value < 0.0005 considered statistically significant. Main role chance ejaculates azoospermic total 21,855 genes against control. Subsequently, 11/23 (47.8%) (39.0±12yrs) retrievals. Their DEG 1,409 imbalanced genes. However, 13 them: 8 involved spermatogenesis 5 Alternatively, 12 –Sperm cohort (34.3±5yrs), 1,265 identified common associated (n = 5), function 3), maturation 1), cell cycle regulation 3). When comparing + cohorts, commonly shared identified. IGSF11-AS1, testis implicated spermatid development, underexpressed all men. TPTE2, testis-specific regulating spermatogenesis, overexpressed 81.8% (9/11) individuals +Sperm conversely -Sperm group. Most interestingly, NEU1, acrosome development fertilization, group, yet clearly entire showed NEU1 exhibited synonymous mutation group frameshift Limitations, reasons caution Using noninvasive RNAseq allowed us identify DEGs may patient failed these are preliminary should further validated larger study cohort. Wider implications findings Transcriptomics represents tool detect presence residual spermatogenesis. Once confirmed, help guide weighing their exposure anesthesia surgical risks. This would mitigate emotional financial distress. Trial registration number N/A