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Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

NCT02495090 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2025-09-25

No results posted yet for this study

Summary

Hypospadias is the second most common malformation of the male genitalia and consists in a congenital hypoplasia of its ventral face. Hypospadias results from abnormal development of the penis that leaves the urethral meatus proximal to its normal glanular position. Meatus position may be located anywhere along the penile shaft, but more severe forms of hypospadias may have a urethral meatus located at the scrotum or perineum. Glandular and penile anterior represents approximately 70% of all the diagnosed cases.

The frequency of family reached depend on the severity of hypospadias. The number of children which have hypospadias mutation discovered by classical technique is low. Families are often the cause of the discovery of new genes involved in sexual differentiation because they allow comparison of genomes of related persons, and detect more easily mutations.

Conditions

  • Hypospadias

Interventions

GENETIC

Exome sequencing

Plain DNA sequencing

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Nicolas Kalfa, MD, PhD · UH Montpellier

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-11-13
Primary Completion
2015-11-12
Completion
2024-04-24

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02495090 on ClinicalTrials.gov