Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 300
- 试验地点
- 2
- 主要终点
- Decision Regret
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Inability to provide informed consent
研究组 & 干预措施
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.
干预措施: Return of Genetic Results (Genetic)
结局指标
主要结局
Decision Regret
时间窗: 3 months after return of genetic results
Score on Decision Regret Scale
次要结局
- 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)
研究者
Yee-Ming Chan
Associate Professor of Pediatrics
Boston Children's Hospital