NCT06628375

A Multimodal Study of the Relationship Between Exposure to Endocrine Disruptors and Occurrence of Hypospadias - HYPOLLUT

Exposure to Endocrine Disruptors and Occurrence of Hypospadias: Toxicological, Environmental and Hormonal Imbalance Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: University Hospital, Montpellier · Academic / Other
• Sex: All
• Age: 1 Month
• Healthy volunteers: Accepted

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: * will establish the diagnosis of hypospadias (for cases) or absence of genital anomaly (for controls) * will lead an interview using a questionnaire and a job-exposure matrix to assess EDCs during pregnancy * will take a hair sample from the mother to measure the substances accumulated during pregnancy * and finally, will take a blood sample from the child for hormonal evaluation of mini-puberty, and another blood sample from child in the Case Group for analysis and the participation in a DNA collection

Conditions

• Hypospadias

Interventions

Type	Name	Description
OTHER	Consultation visit (Visit 1)	During visit 1, a pediatric urologist or pediatric endocrinologist will perform a clinical examination to confirm the diagnosis of hypospadias, as a part of routine care. The clinical study investigator will ask to fill out a validated European questionnaire for the exposome and use an occupation/exposure matrix to identify specific atmospheric exposure. A hair sample from the biological mother will be taken for toxicological evaluation of substances accumulated during pregnancy. From the child, a blood sample will be taken for hormonal evaluation of minipuberty and then, another sample in a 5 ml EDTA tube will be taken for DNA collection.
OTHER	Consultation visit (Visit 1)	During visit 1, a pediatric urologist or pediatric endocrinologist will perform a clinical examination to confirm the absence of hypospadias. The clinical study investigator will ask to fill out a validated European questionnaire for the exposome and use an occupation/exposure matrix to identify specific atmospheric exposure. A hair sample from the biological mother will be taken for toxicological evaluation of substances accumulated during pregnancy. From the child, a blood sample will be taken for hormonal evaluation of minipuberty.

Timeline

• Start date: 2024-10-03
• Primary completion: 2027-09-30
• Completion: 2027-10-03
• First posted: 2024-10-08
• Last updated: 2025-11-26

Locations

1 site across 1 country: France