Genetics of Differences of Sex Development and Hypospadias
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Return of Genetic Results.
- Who it may be relevant to
- Registry conditions: Disorders of Sex Development, Hypospadias. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
Overview
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.
Interventions
- 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.
Primary outcome measures
- Decision Regret [Time frame: 3 months after return of genetic results]
Secondary outcome measures (8)
- Parenting-Related Stress [Time frame: 3 months after return of genetic results compared to baseline]
- Child Health-Related Stress [Time frame: 3 months after return of genetic results compared to baseline]
- Anxiety [Time frame: 3 months after return of genetic results compared to baseline]
- Depression [Time frame: 3 months after return of genetic results compared to baseline]
- Partner Relationship [Time frame: 3 months after return of genetic results compared to baseline]
- Partner Blame [Time frame: 3 months after return of genetic results compared to baseline]
- Stigma [Time frame: baseline, 3 months after return of genetic results]
- Quality of Life score [Time frame: baseline, 3 months after return of genetic results]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
United States · 1 center
- Boston Children's Hospital — Boston
Identifiers
NCT: NCT03102554 · IRB-P00012912