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The aim of the project is to elucidate the genetic etiology underlying the development of the processus vaginalis (PV) in male children with indirect inguinal hernia (IIH) and undescended testis (UT), through the investigation of potential variants in the INSL3, WT1, and GATA6 genes using next-generation sequencing (NGS), and to explore possible differences in the tissue-level expression of these genes by real-time PCR analysis.
Indirect inguinal hernia represents a significant clinical problem for human health, due to its high prevalence in the population and its potential to cause life-threatening conditions or permanent functional loss. The treatment of both of these conditions, under current circumstances, requires surgical intervention. In the course of IIH, segmental loss of reproductive organs and intestines in both girls and boys, together with ischemia-reperfusion injury occurring in these tissues, constitute serious medical complications that cannot be overlooked. Furthermore, the substantial economic cost associated with the management of such severe complications necessitates meticulous control of the process. UT, on the other hand, is being observed with increasing frequency today and represents a significant health problem in society, as it is closely associated with reproductive disorders.
Clarifying the mechanisms underlying the pathogenesis of both inguinal region diseases will make a critical contribution not only to protecting individual health, but also to advancing societal well-being and scientific knowledge. Moreover, the data obtained from this study are expected to provide new perspectives for IIH and UT treatment approaches and form a scientific basis for future studies in the field.
This prospective cross-sectional study will comprise 20 patients with indirect inguinal hernia, 20 patients with undescended testis, and 20 patients undergoing circumcision, consecutively admitted to the Department of Pediatric Surgery, Faculty of Medicine, Trakya University. Patent processus vaginalis tissues excised during surgery from patients with IIH and UT, and preputial tissues obtained from patients in the circumcision group, will be collected. Tissue and blood samples taken from the patients will be transferred to the Department of Medical Genetics, Faculty of Medicine, Trakya University, for further analyses.
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| Measure | Description | Time Frame |
|---|---|---|
| Identification of Genetic Variants in INSL3, WT1, and GATA6 Genes | Investigation of potential genetic variants and mutations in INSL3, WT1, and GATA6 genes using Next-Generation Sequencing (NGS) from both processus vaginalis (PV) tissues and genomic DNA obtained from leukocytes. | Up to 3 months after completion of the study |
| Measure | Description | Time Frame |
|---|---|---|
| Analysis of Gene Expression Levels in Processus Vaginalis Tissues | Evaluation of the mRNA expression levels of INSL3, WT1, and GATA6 genes in PV tissues using Real-Time PCR to determine tissue-specific differences in gene regulation. | Up to 3 months after completion of the study |
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Inclusion Criteria:
Exclusion Criteria:
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Patients who present to the Pediatric Surgery Outpatient Clinic of Trakya University Faculty of Medicine between September 2025 and September 2026, including 20 diagnosed with IIH, 20 diagnosed with IT, and 20 presenting for circumcision, and for whom informed consent has been obtained, will be consecutively enrolled in the study.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Trakya University Faculty of Medicine, Department of Pediatric Surgery | Edirne | 22020 | Turkey (Türkiye) |
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| ID | Term |
|---|---|
| D006552 | Hernia, Inguinal |
| D003456 | Cryptorchidism |
| D009396 | Wilms Tumor |
| ID | Term |
|---|---|
| D046449 | Hernia, Abdominal |
| D006547 | Hernia |
| D020763 | Pathological Conditions, Anatomical |
| D013568 | Pathological Conditions, Signs and Symptoms |
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Patent processus vaginalis and preputial tissue samples for mRNA expression analysis, and peripheral blood samples stored for DNA variation analysis
| D013733 | Testicular Diseases |
| D005832 | Genital Diseases, Male |
| D000091662 | Genital Diseases |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D014564 | Urogenital Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D018193 | Neoplasms, Complex and Mixed |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D007680 | Kidney Neoplasms |
| D014571 | Urologic Neoplasms |
| D014565 | Urogenital Neoplasms |
| D009371 | Neoplasms by Site |
| D009386 | Neoplastic Syndromes, Hereditary |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D030342 | Genetic Diseases, Inborn |