Clinical Trial: Genetics of Disorders of Sex Development and Hypospadias

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Interventional

Official Title: Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Disorders of Sex Development (DSD) and Hypospadias

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 Summary: This study seeks to understand the genetic causes of conditions that affect the development of the genitals, such as disorders 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.
Sponsor: Boston Children’s Hospital

Current Primary Outcome: Decision Regret [ Time Frame: 3 months after return of genetic results ]

Score on Decision Regret Scale


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Parenting-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Parenting Stress Index
  • Child Health-Related Stress [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Child Health Worry Scale
  • Anxiety [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Generalized Anxiety Disorder-7
  • Depression [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Patient Health Questionnaire-9
  • Partner Relationship [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on Kansas Marital Satisfaction Scale
  • Partner Blame [ Time Frame: 3 months after return of genetic results compared to baseline ]
    Score on this novel measure
  • Stigma [ Time Frame: baseline, 3 months after return of genetic results ]
    Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
  • Quality of Life [ Time Frame: baseline, 3 months after return of genetic results ]
    Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"


Original Secondary Outcome: Same as current

Information By: Boston Children’s Hospital

Dates:
Date Received: March 27, 2017
Date Started: April 2017
Date Completion: September 2020
Last Updated: March 30, 2017
Last Verified: March 2017