Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Disorders of Sex Development
- Sponsor
- Boston Children's Hospital
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Decision Regret
- Status
- Enrolling By Invitation
- Last Updated
- 10 months ago
Overview
Brief 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.
Investigators
Yee-Ming Chan
Associate Professor of Pediatrics
Boston Children's Hospital
Eligibility Criteria
Inclusion Criteria
- •Genital or gonadal abnormalities as evidenced by physical examination or imaging (including but not limited to hypospadias, microphallus, clitoromegaly, ambiguous genitalia), with no cause identified by standard clinical evaluation
Exclusion Criteria
- •Inability to provide informed consent
Outcomes
Primary Outcomes
Decision Regret
Time Frame: 3 months after return of genetic results
Score on Decision Regret Scale
Secondary Outcomes
- Stigma(baseline, 3 months after return of genetic results)
- Anxiety(3 months after return of genetic results compared to baseline)
- Parenting-Related Stress(3 months after return of genetic results compared to baseline)
- Child Health-Related Stress(3 months after return of genetic results compared to baseline)
- Partner Relationship(3 months after return of genetic results compared to baseline)
- Partner Blame(3 months after return of genetic results compared to baseline)
- Depression(3 months after return of genetic results compared to baseline)
- Quality of Life score(baseline, 3 months after return of genetic results)