Genetics of Differences of Sex Development and Hypospadias
- Conditions
- HypospadiasDisorders of Sex Development
- Registration Number
- NCT03102554
- Lead Sponsor
- Boston Children's Hospital
- 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.
Recruitment & Eligibility
- Status
- ENROLLING_BY_INVITATION
- Sex
- All
- Target Recruitment
- 300
- 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
- Inability to provide informed consent
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method Decision Regret 3 months after return of genetic results Score on Decision Regret Scale
- Secondary Outcome Measures
Name Time Method Depression 3 months after return of genetic results compared to baseline Score on Patient Health Questionnaire-9
Stigma baseline, 3 months after return of genetic results Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
Parenting-Related Stress 3 months after return of genetic results compared to baseline Score on Parenting Stress Index
Child Health-Related Stress 3 months after return of genetic results compared to baseline Score on Child Health Worry Scale
Partner Relationship 3 months after return of genetic results compared to baseline Score on Kansas Marital Satisfaction Scale
Anxiety 3 months after return of genetic results compared to baseline Score on Generalized Anxiety Disorder-7
Partner Blame 3 months after return of genetic results compared to baseline Score on this novel measure
Quality of Life score baseline, 3 months after return of genetic results Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"
Trial Locations
- Locations (1)
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
Boston Children's Hospital🇺🇸Boston, Massachusetts, United States