To delineate the transcriptomic landscape of pediatric concealed penis (CP) and identify candidate signaling pathways associated with dartos fascia remodeling.
Approach:
RNA-seq Analysis: Performed RNA-seq on dartos fascia tissues from CP patients and phimosis control tissues, followed by bioinformatic analysis including GO enrichment, KEGG pathway analysis, and GSEA.
Validation Techniques: Validation using qRT-PCR, Western blot, and immunohistochemistry.
Key Findings:
Significantly enriched IL-17-related signaling signature identified in CP tissues.
Increased expression of IL-17RA, ACT1, FOS, IL-6, and PTGS2 in CP tissues.
Synchronous upregulation of FOS and downstream mediators IL-6 and PTGS2 associated with fragmented elastic fibers and increased matrix deposition.
Interpretation:
IL-17/FOS-associated inflammatory remodeling signatures are enriched in CP dartos fascia, potentially contributing to reduced tissue compliance and fibrosis.
Limitations:
Study is hypothesis-generating and not a functional validation study.
Limited molecular evidence currently available in CP, which may hinder understanding of its pathogenesis.
