WOFAPS 2025 8th World Congress of Pediatric Surgery

Muhammed Kurt ¹, Alev Süzen ¹, Tuba Edgünlü ²

¹ Department of Pediatric Surgery, Muğla Sıtkı Koçman University School of Medicine, Muğla, Turkey
² Mugla Sitki Kocman University Faculty of Medicine Department of Medical Biology and Genetics

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Aim

Hypospadias is one of the most common congenital urogenital anomalies in childhood. Genetic, endocrine, and environmental factors are thought to play a role in its etiopathogenesis. The aim of this study was to comparatively evaluate the tissue level expressions of Zeb1, TGF-β1, and Smad2/3 genes and miR-200c miRNA, which are predicted to contribute to the etiology of hypospadias.

Methods

Preputial tissues obtained from 25 children who underwent surgery for hypospadias and 25 healthy children who underwent circumcision as a control group were used in the study. In the genetics laboratory, the expression levels of miR-200c miRNA and Zeb1, Tgf-ß1 and Smad2/3 genes in the tissues were analyzed using the qRT-PCR (quantitative real-time PCR) method.

Results

As a result of qRT-PCR analyses, it was determined that the expression levels of miR-200c, Zeb1, TGF-ß1, and Smad2 genes in the hypospadias group were statistically significantly lower compared to the control group. In contrast, it was determined that the Smad3 gene expression level increased significantly in the hypospadias group.

Conclusion

Recent studies have revealed that genetic and epigenetic mechanisms play a decisive role in the development of the urogenital system and may also contribute to the etiology of hypospadias in this process. miRNAs, particularly miR-200c, regulate the post-transcriptional expression of genes such as Zeb1, Tgf-ß1 and Smad2/3; play important roles in the coordination of basic biological processes such as cellular proliferation, differentiation, organogenesis, and apoptosis. Experimental studies have shown that these genes and mir200c may play an effective role in the etiology of hypospadias. In further studies, it is planned to conduct research in larger populations and to include the pathways of related genes.