: 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. : 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. : 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. : 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.

Download full-text PDF

Source
http://dx.doi.org/10.3390/diagnostics15050561DOI Listing

Publication Analysis

Top Keywords

hypospadias biobank
12
biobank cohort
12
hypospadias
9
comprehensive database
8
clinical phenotypic
8
biological samples
8
patient outcomes
8
hypospadias severity
8
associated anomalies
8
anomalies surgical
8

Similar Publications

: 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.

View Article and Find Full Text PDF

Study Question: Is there an association between maternal occupational exposure to endocrine-disrupting chemicals (EDCs) early in pregnancy and subgroups of congenital anomalies of kidney and urinary tract (CAKUT), and hypospadias?

Summary Answer: Exposure to specific EDCs can increase the risk of CAKUT and no association with hypospadias was observed.

What Is Known Already: Previous studies showed an association between maternal occupational exposure to EDCs and hypospadias. However, little is known about the effect of these chemicals on the development of CAKUT, especially subgroups of urinary tract anomalies.

View Article and Find Full Text PDF

Maternal hypertensive disorders and subtypes of hypospadias: A Dutch case-control study.

Paediatr Perinat Epidemiol

November 2020

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.

Article Synopsis
  • Hypospadias is a common birth defect in boys where the urethra opens on the underside of the penis, and while maternal hypertensive disorders may be linked to it, previous studies have shown inconsistent results.
  • This study analyzed data from 887 cases of hypospadias and 1,005 male controls to examine the relationship between maternal hypertensive disorders and different hypospadias subtypes, focusing on the role of treatment.
  • Results revealed that while general hypertensive disorders were not linked to hypospadias, preeclampsia was significantly associated with posterior hypospadias, regardless of whether it was treated or not.
View Article and Find Full Text PDF

The period of the first to second trimester transition in human pregnancy represents a sensitive window for fetal organogenesis, particularly in regard to the development of the male reproductive system. This is a time of relative analytical inaccessibility. We have used a large national biobank of amniotic fluid samples collected at routine amniocentesis to determine the impacts of exogenous endocrine disruptor load on specific fetal biomarkers at this critical time.

View Article and Find Full Text PDF

AGORA, a data- and biobank for birth defects and childhood cancer.

Birth Defects Res A Clin Mol Teratol

August 2016

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.

Background: Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!