Genetics of Differences of Sex Development and Hypospadias
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
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 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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Experimental: Genetic Testing Subjects will provide a DNA sample, which will be screened for variants in genes related to DSD/hypospadias. Probands/parents who wish to receive results of genetic testing related to DSD/hypospadias will receive these results directly from the research study. Parents who receive results of genetic testing for probands 17 years old or younger will complete questionnaires at the time of enrollment, right after receiving genetic results, and 3 months after receiving genetic results. |
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.
|
Outcome Measures
Primary Outcome Measures
- Decision Regret [3 months after return of genetic results]
Score on Decision Regret Scale
Secondary Outcome Measures
- 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
- Anxiety [3 months after return of genetic results compared to baseline]
Score on Generalized Anxiety Disorder-7
- Depression [3 months after return of genetic results compared to baseline]
Score on Patient Health Questionnaire-9
- Partner Relationship [3 months after return of genetic results compared to baseline]
Score on Kansas Marital Satisfaction Scale
- Partner Blame [3 months after return of genetic results compared to baseline]
Score on this novel measure
- Stigma [baseline, 3 months after return of genetic results]
Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
- 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"
Eligibility Criteria
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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Boston Children's Hospital | Boston | Massachusetts | United States | 02115 |
Sponsors and Collaborators
- Boston Children's Hospital
Investigators
- Principal Investigator: Yee-Ming Chan, MD, PhD, Boston Children's Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- IRB-P00012912