Exposure to Endocrine Disruptors and Occurrence of Hypospadias: Toxicological, Environmental and Hormonal Imbalance Study
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 200
- Locations
- 1
- Primary Endpoint
- Evaluation of toxic exposure via hair sample analysis
Study Overview
Brief Summary
This study aims to demonstrate the impact of Endocrine-Disrupting Chemicals (EDCs) on the risk of hypospadias incidence. It is a multicenter comparative case-control study, involving two groups. The first group consists of biological mothers who have given birth to children with hypospadias (Case Group), while the second group consists of biological mothers who have given birth to children without any malformations (Control Group). Through an integrative approach that combines a direct toxicological study of numerous pollutants present during pregnancy, and a comprehensive exposome assessment using validated tools, this study can significantly enhance our understanding and prevention of this malformation.
Detailed Description
Background. Hypospadias is a birth defect of the external genital organs in boys and it ranks the second most common genital malformation in male newborns, following cryptorchidism. Its prevalence is increasing in certain global regions, with an estimated rate of 3.8 cases per 1000 male births. To date, the exact cause of hypospadias remains unknown, however genetic, hormonal, and environmental factors are likely involved. Medical and surgical treatment may be necessary. Furthermore, hypospadias is correlated with fertility issues and is also linked to testicular cancer.
Aim. After ruling out hypospadias with a genetic cause, the aim of this study is to evaluate any significant differences to environmental endocrine disrupting-chemicals (EDCs) exposure between biological mothers of children with hypospadias and those with children without malformation. It aims to demonstrate that this exposure (professional, occupational, environmental) leads to hormonal changes during the neonatal mini-puberty period.
Methods. This research will be conducted as a multicenter case-control study: mother and son with isolated anterior or middle hypospadias (Case Group) and mother and son without hypospadias (Control Group). The clinical investigator plans to enroll 200 patients.
A single visit will be performed. This consultation is part of the usual follow-up for children in the Case Group, while it is specific to the project for children in the Control Group.
During this visit, the investigator:
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 1 Month to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- Not provided
Exclusion Criteria
- •Child with another congenital anomaly or malformative syndrome
- •Child with an endocrine pathology
- •Biological mother or child under legal protection, guardianship, or curatorship
- •Biological mother or child in the exclusion period of a previous study
- •Biological mother or child included in another clinical study involving a drug
- •Specific Exclusion Criteria for Case Group:
- •Biological mother/child pairs if a genetic variant explaining hypospadias is found during genetic analysis.
Outcomes
Primary Outcomes
Evaluation of toxic exposure via hair sample analysis
Time Frame: Day 1 (Visit 1)
An assessment of toxic substance concentrations in maternal hair will evaluate exposure to a wide range of pollutants. The collected hair samples will provide data representing the period from three months before conception to the date of study enrollment. The study will analyze 150 chemical substances and measure their concentrations to assess mothers' exposure to these pollutants during pregnancy.
Secondary Outcomes
- Exposome professionnel(Day 1 (Visit 1))
- Exposome through validated European questionnaires (QLK4-1999-01422)(Day 1 (Visit 1))
- Pollutant dispersion model(Day 1 (Visit 1))
- Hormonal analysis by immunoassay principle(Day 1 (Visit 1))