Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

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

COMPLETED

Clinical Phase

NA

Total Enrollment

60 participants

Study Classification

INTERVENTIONAL

Study Start Date

2014-11-13

Study Completion Date

2024-04-24

Brief Summary

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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.

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Detailed Description

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The aim of this protocol is to search for new genes involved in genital malformations such as hypospadias. Addressed to families with usual causes of these malformations excluded. The search for these mutations will be done by exome sequencing in families where several cases of hypospadias were identified.

Conditions

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Hypospadias

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Hypospadias

Familial hypospadias trios (patients + parents)

Group Type OTHER

Exome sequencing

Intervention Type GENETIC

Plain DNA sequencing

Interventions

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Exome sequencing

Plain DNA sequencing

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Hypospadiac patients with a familial history of hypospadias

Exclusion Criteria

* Hypospadiac patients without a family history of hypospadias
* Hypospadiac patients with a family history of hypospadias where etiology is identified

Eligible Sex

ALL

Accepts Healthy Volunteers

No