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

NCT ID: NCT06628375

Last Updated: 2025-11-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-10-03

Study Completion Date

2027-10-03

Brief Summary

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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

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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

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Hypospadias

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Case Group

Biological mother and son with hypospadias

Consultation visit (Visit 1)

Intervention Type OTHER

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.

Control Group

Biological mother and son without hypospadias

Consultation visit (Visit 1)

Intervention Type OTHER

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.

Interventions

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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.

Intervention Type 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.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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
* Biological mother and child affiliated with or beneficiaries of a national health insurance plan
* Biological mother who is fluent in written and spoken French


\- The child has an isolated anterior or middle hypospadias, without any other complex variations of genital development (borderline penile size, unilateral or bilateral cryptorchidism, retractile testes), without malformation syndrome and without identified genetic etiology


\- The child must not present any complex variations in genital development (hypospadias, borderline penis size, unilateral or bilateral cryptorchidism, retractile testes)

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


Biological mother/child pairs if a genetic variant explaining hypospadias is found during genetic analysis.
Minimum Eligible Age

1 Month

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital, Montpellier

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Nicolas KALFA, Prof

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Montpellier

Locations

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CRMR DEVGEN CHU Lapeyronnie

Montpellier, Hérault, France

Site Status RECRUITING

Countries

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France

Central Contacts

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Nicolas KALFA, Prof

Role: CONTACT

0467338784

References

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Other Identifiers

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RECHMPL22_0559

Identifier Type: -

Identifier Source: org_study_id

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