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.
Parents of legal age having signed a free and informed consent for the participation of their child
Biological mother of a boy aged between 1 and 6 months
Biological mother with a minimum hair length of 18 cm
Biological mother who has signed a free and informed consent for her participation
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
Case Group: Biological mother and child with hypospadias Control group: Biological mother and child without hypospadias
Case-control
Cross-sectional
Consultation visit (Visit 1)
Other interventionDuring 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.
Consultation visit (Visit 1)
Other interventionDuring 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.
Evaluation of toxic exposure via hair sample analysis
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.
Exposome through validated European questionnaires (QLK4-1999-01422)
Evaluation of parents' environmental exposure (exposome) will be conducted using a simplified version of a validated European questionnaire. This approach aims to elucidate potential differences in exposure between case and control groups.
Exposome professionnel
Assessment by the job-exposure matrix EDC (Environment disrupting chemicals)
Pollutant dispersion model
Examination of atmospheric pollutant concentration measurements and their potential impact on maternal exposure during gestation. This study conducts a comparative analysis between two groups: mothers of affected children (case group) and mothers of unaffected children (control group).
Hormonal analysis by immunoassay principle
Measurement of plasma hormone levels of mini-puberty to investigate a correlation between toxicological dosage and endocrine disruption. FSH, LH, AMH and free Testosterone will be measured by Electrochemiluminescence and Inhibin B by ELISA assay. This assessment of a mini-puberty alteration will be carried out by comparing age-based norms and the values of the control group
Click on the lead sponsor to view all of their trials.
