INVESTIGATION OF THE GENETIC ETIOLOGY OF HERNIA SAC DEVELOPMENT IN MALE CHILDREN WITH UNDESCENDED TESTIS AND INGUINAL HERNIA

NCT07586332 | Active Not Recruiting

• 1 other identifier: 2025/184
• Study Type: observational
• Target: 3
• Locations: 1 country
• Sites: 1

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.

Conditions

Undescended Testis; Indirect Inguinal Hernia

Keywords

children; inguinal hernia; undescended testis; processus vaginalis; gata6; wt1; insl3

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• Analysis of Gene Expression Levels in Processus Vaginalis Tissues

  Up to 3 months after completion of the study

Eligibility Criteria

• Age: Up to 18 Years
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Trakya University: lead

Study Sites (1)

Trakya University Faculty of Medicine, Department of Pediatric Surgery

Edirne, 22020, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITH DNA

Patent processus vaginalis and preputial tissue samples for mRNA expression analysis, and peripheral blood samples stored for DNA variation analysis

MeSH Terms

Conditions

Hernia, Inguinal; Cryptorchidism; Wilms Tumor

Condition Hierarchy (Ancestors)

Hernia, Abdominal; Hernia; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Testicular Diseases; Genital Diseases, Male; Genital Diseases; Urogenital Diseases; Male Urogenital Diseases; Urogenital Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Gonadal Disorders; Endocrine System Diseases; Neoplasms, Complex and Mixed; Neoplasms by Histologic Type; Neoplasms; Kidney Neoplasms; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Neoplastic Syndromes, Hereditary; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Kidney Diseases; Urologic Diseases; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 14 Days
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Resident

Study Record Dates

• First Submitted: April 30, 2026
• First Posted: May 14, 2026
• Study Start: September 9, 2025
• Primary Completion: April 10, 2026
• Study Completion (Estimated): March 1, 2027
• Last Updated: May 14, 2026

Record last verified: 2026-04

Locations

TU (1)