Clinical Trial: Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Interventional

Official Title: Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

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 Summary: 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.
Sponsor: University Hospital, Montpellier

Current Primary Outcome: number of new genetic variants [ Time Frame: 1 day ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University Hospital, Montpellier

Dates:
Date Received: June 15, 2015
Date Started: November 2014
Date Completion: November 2016
Last Updated: July 10, 2015
Last Verified: June 2015