Article révisé par les pairs
Résumé : ObjectiveTo improve fertility outcomes of infertility associated CCDC188 variations in humans affected by Acephalic Spermatozoa Syndrome.SubjectsA 20-year-old man from a consanguineous family applied to our fertility clinic. Semen analysis revealed 100% acephalic spermatozoa, preventing sperm concentration assessment. Exome-based gene panel analysis identified a novel pathogenic homozygous nonsense variation in CCDC188.ExposureBased on CCDC188-null mice demonstrating the presence of a few intact spermatozoa in the testis (while 100% acephalic in the epididymis) and recently reported poor ICSI outcome with fresh semen, ICSI using fresh testicular sperm was proposed.Main Outcome MeasuresMolecular genetic results, fertilization outcomes, biochemical pregnancy.ResultsConventional testicular sperm extraction TESE was performed on the day of the oocyte retrieval. Microscopic examination revealed a few intact motile spermatozoa at 2 sites. 13 cumulus-oocyte complexes were retrieved, 11 mature oocytes were injected with motile testicular sperm, and artificial oocyte activation was applied. 2 oocytes were fertilized normally and developed into high-quality embryos, which were cryopreserved. Frozen embryo transfer in a natural cycle resulted in a biochemical pregnancy.ConclusionTESE combined with ICSI may represent a potential therapeutic approach in infertility related to CCDC188 variations. Accurate clinical phenotyping and complementary genetic analysis are crucial for developing patient-specific therapeutic strategies in medically assisted reproduction.

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