Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

Not Applicable

Completed

• Conditions: Hypospadias
• Interventions: Genetic: Exome sequencing

• Registration Number: NCT02495090
• Lead Sponsor: University Hospital, Montpellier

Brief 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.

Detailed Description

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.

Study Timeline

• Study Start: 2014-11-13
• Study First Submitted: 2015-06-15
• Study First Submitted QC: 2015-07-10
• Study First Posted: 2015-07-13
• Primary Completion: 2015-11-12
• Status Verified: 2024-04
• Study Completion: 2024-04-24
• Last Update Submitted: 2024-04-24
• Last Update Posted: 2024-04-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 60

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Hypospadias	Exome sequencing	Familial hypospadias trios (patients + parents)

Primary Outcome Measures

Name	Time	Method
number of new genetic variants	1 day	exome sequencing

Trial Locations

Locations (1)

Hôpital Lapeyronie; 🇫🇷 Montpellier Cedex 5, France