Genetics of Differences of Sex Development and Hypospadias
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Disorders of Sex Development
- Hypospadias
- Type
- Interventional
- Phase
- Not Applicable
- Design
- Allocation: N/AIntervention Model: Single Group AssignmentIntervention Model Description: Longitudinal cohortMasking: None (Open Label)Primary Purpose: Diagnostic
Participation Requirements
- Age
- Younger than 125 years
- Gender
- Both males and females
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...
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 also build a tissue bank of blood, urine, and discarded tissues from surgeries. 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.
Tracking Information
- NCT #
- NCT03102554
- Collaborators
- Not Provided
- Investigators
- Principal Investigator: Yee-Ming Chan, MD, PhD Boston Children's Hospital
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