Indirect Inguinal Hernia, Undescended Testis
Conditions
Keywords
children, inguinal hernia, undescended testis, processus vaginalis, gata6, wt1, insl3
Brief summary
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.
Interventions
None listed
Sponsors
Trakya University
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
No minimum to 18 Years
Healthy volunteers
Yes
Inclusion criteria
* All pediatric age groups * Patients with Indirect Inguinal Hernia without additional systemic or inguinoscrotal diseases * Patients with Undescended Testis without additional systemic or inguinoscrotal diseases * Patients requesting circumcision without additional systemic or inguinoscrotal diseases * Healthy children undergoing circumcision for traditional reasons
Exclusion criteria
* Patients with recurrence, hydrocele, prior abdominal/inguinoscrotal surgery, genetic disorders, or incarcerated/strangulated IIH * Any syndromic disease * Bilateral IIH patients * Bilateral UT patients * Patients with hypospadias, micropenis, disorders of sex development, or genitourinary anomalies/diseases * Presence of umbilical, femoral, Spigelian, or lumbar hernia * History of premature birth
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of Genetic Variants in INSL3, WT1, and GATA6 Genes | Up to 3 months after completion of the study | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Analysis of Gene Expression Levels in Processus Vaginalis Tissues | Up to 3 months after completion of the study | 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. |
Countries
Turkey (Türkiye)
Outcome results
None listed