P-069 A male factor panel of NGS can identify the genetic cause of more than half patients with seminal alterations

Abstract Study question Is Next Generation Sequencing (NGS) an effective diagnostic tool for sperm abnormalities? Summary answer NGS male factor gene panel can be a potent discovering pathogenic variants linked to abnormalities. What is known already Male infertility, responsible half of infertility cases, often shows as absence or decreased count (azoospermia, criptozoospermia oligozoospermia), poor motility (asthenozoospermia) higher proportion morphologically abnormal (teratozoospermia). While the spermiogram remains gold standard evaluating fertility, potential identify molecular basis abnormalities may make valuable approach such patients. The aim our study was assess panel's effectiveness in diagnosing patients with count, and morphology. design, size, duration A prospective conducted from May 2021 2022 82 including 20 oligozoospermia, 19 asthenozoospermia 23 teratozoospermia. No other alterations were taken into account each group. control group consisted normozoospermic healthy donors selected on normal parameters according WHO criteria (2010). Patients carrying Y-chromosome microdeletions karyotype excluded. Participants/materials, setting, methods Genomic DNA extraction blood-EDTA performed using commercial MagMax MultiSample Ultra kit King-Fisher automated extractor (ThermoFisher®). done 426 genes involved spermatogenesis process. Panel sequencing identification genetic Nextera Enrichment technology (Illumina®). FASTAQ data processed BWA GATK algorithms. VCF files analysed Variant Interpreter software silico predictors. Main results role chance Data analysis showed that thirty-seven sixty-two carriers mutations at least one included (37/62,59.6%). In oligozoospermic group, eleven (11/20,55%) in:CFTR, CEP290, WDR66, ESR1, DNAI2, POLG, PIWIL3, GNRHR, MSH5 CTNS. asthenozoospermic ten out nineteen (10/19,52.6%) in:HS6ST1, PMS2, CYP19A1, LRRC6, G6PD, CCDC39 PIWIL3. teratozoospermic six twenty-three (6/23,26%) CYP21A2, SRD5A. detected comparable among various no significant difference (p > 0.05). Each variant found single patient per except POLG CCDC39, which two cases respectively, also CFTR PIWIL3 Besides, it remarkable some present more than group:CFTR (3/62), DNAI2 (2/62), (3/62) (4/62). All identified processes dynein assembly integrity. Limitations, reasons caution main limitation this limited number included. Functional studies larger cohort males seminal disorders warranted confidently correlate spermatogenic failure. Wider implications findings list represents step-forward screening altered parameters. Our add knowledge provide etiologic factors towards personalized treatment adequate counselling. Trial registration Not applicable