Assessment of Familial Predisposition Through Parental Inquiry in Undescended Testis Cases

Abstract

Aim: Non-syndromic cryptorchidism, also referred to as undescended testis (UDT), represents a developmental abnormality occurring in early childhood, the underlying cause of which remains unclear. It is thought to arise from both hereditary susceptibility and environmental influences. This study aimed to explore parental reports concerning familial predisposition (FP) in order to gain further insight into the origins of this frequently encountered and multifactorial condition. Methods: Between 2012 and 2023, the phone numbers of 1,024 patients who underwent surgery for UDT were retrieved from electronic medical records. The parents of these 1,024 patients were contacted and asked, "Do you or any of your relatives have a diagnosis of udescended testicles (UDT)?" Parents were contacted again via phone 10 days after the initial contact, and the results were recorded in detail. Data from the parents of 823 patients were ultimately incorporated into the study analysis. The collected data were analyzed for FP in terms of dizygotic and monozygotic twins, fathers, siblings, uncles, cousins, and grandfathers. Results: For the 162 participants identified with FP, the average age was calculated as 4.08±1.87 years. The mean age of the 661 individuals without FP was 3.27±1.80 years. When the relationship between FP and both the localization and laterality of UDT was analyzed, a significant association was found in cases with proximal localization and bilateral involvement (p<0.05). Similarly, a significant relationship was observed between FP and genetic predisposition (dizygotic and monozygotic twins) in UDT cases (p<0.001). Conclusion: Our study provides evidence of a connection between non-syndromic cryptorchidism or UDT and FP through a comprehensive evaluation of a large patient series.

Keywords

• cryptorchidism
• children
• genetic predisposition to disease
• parents