{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE311nnn/GSE311763/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Transcriptomics"],"species":["Mus musculus"],"gds_type":["Expression profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE311763"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Ccdc117 deficiency triggers compensatory hyperandrogenism to sustain spermatogenesis and male fertility","description":"Background The precise regulation of testicular steroidogenesis is fundamental to male fertility. While many coiled-coil domain-containing (CCDC) proteins are critical structural components of spermatogenesis, the functional role of the testis-enriched CCDC117 remains undefined, presenting a significant gap in our understanding of local testicular regulation. Methods We generated a Ccdc117 knockout mouse model using CRISPR/Cas9 and characterized the phenotypic consequences through histology, computer-assisted sperm analysis (CASA), and fertility assessments. The molecular underpinnings were investigated via testis-wide RNA sequencing, Western blotting, immunofluorescence, and hormonal measurements. Results Ccdc117ko males developed a paradoxical phenotype: significant testicular hypotrophy alongside completely preserved fertility. Despite a ~25% reduction in testis size, sperm counts, motility, and spermatogenic progression were normal. Transcriptomic analysis uncovered a specific and coordinated upregulation of the steroidogenic pathway, which was validated by a concomitant increase in the protein levels of key enzymes (CYP17A1, StAR, HSD3B2) specifically within Leydig cells. Consequently, serum testosterone levels were significantly elevated by approximately two-fold without a concomitant rise in GnRH.","dates":{"publication":"2026/03/31"},"accession":"GSE311763","cross_references":{"GSM":["GSM9331662","GSM9331663","GSM9331664","GSM9331665","GSM9331666","GSM9331667"],"GPL":["17021"],"GSE":["311763"],"taxon":["Mus musculus"]}}