NCT03102554

Genetics of Differences of Sex Development and Hypospadias

Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias

• Status: Enrolling By Invitation
• Phase: N/A
• Study type: Interventional
• Enrollment: 300 (estimated)
• Sponsor: Boston Children's Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This study seeks to identify genetic causes of conditions that affect the gonads and genitals, and to study the impact on families of receiving genetic results.

Detailed description

This study seeks to understand the genetic causes of conditions that affect the development of the genitals, such as differences of sex development (DSD) and hypospadias, and the impact on families of receiving genetic results. The investigators are recruiting individuals with DSD and/or hypospadias without a clear genetic cause along with their family members for our research study. The investigators will collect samples for genetic studies. The investigators will review the clinical record for history, labs and physical exam information. The investigators will return results of genetic testing to parents/guardians of children with DSD/hypospadias and have them complete questionnaires to assess the impact of receiving these results.

Conditions

• Disorders of Sex Development
• Hypospadias

Interventions

Type	Name	Description
GENETIC	Return of Genetic Results	The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.

Timeline

• Start date: 2018-01-01
• Primary completion: 2026-12-01
• Completion: 2026-12-01
• First posted: 2017-04-05
• Last updated: 2025-06-13

Locations

1 site across 1 country: United States