Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping

Abstract

Background/Objectives: Hypospadias, a common congenital anomaly in males, presents significant challenges in diagnosis, management, and long-term care. Despite its prevalence, research into the condition has been hampered by the lack of integrated biobank cohorts linking clinical, phenotypic, and surgical data with biological samples. This study aimed to establish the Hypospadias Biobank Cohort (HBC), a comprehensive resource designed to advance the understanding of hypospadias etiology and improve patient outcomes. Methods: The HBC was developed using a multi-phase approach, enrolling participants from specialized clinics between April 2022 and September 2024. Biological samples (blood and tissue) were collected under standardized protocols following informed consent. Detailed clinical data, including hypospadias severity, associated anomalies, and surgical outcomes, were systematically recorded and integrated into a robust database to support translational research. Results: The cohort included a diverse group of patients with varying severity of hypospadias, many of whom also presented with associated anomalies. Surgical outcomes were tracked, revealing important correlations between severity and postoperative complications. Preliminary biological analyses identified potential biomarkers associated with hypospadias severity and recovery. The full details of these results will be presented in a separate publication. The comprehensive database is continuously updated with longitudinal follow-up data, supporting future translational research. Conclusions: The Hypospadias Biobank Cohort represents a groundbreaking resource for translational research, offering unprecedented insights into the clinical and phenotypic spectrum of hypospadias. By enabling the refinement of classification systems and the development of evidence-based surgical techniques, the HBC has the potential to transform the management of this congenital condition. Ongoing research leveraging the HBC will further unravel the complex interplay among clinical presentation, surgical interventions, and patient outcomes, paving the way for personalized care strategies and improved long-term results.