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

Condition(s) studied

Study 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.

Eligibility

Primary outcome measure(s)

• 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.

Trial sites (1)

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