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.
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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
300
The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.
Boston Children's Hospital
Boston, Massachusetts, United States
Decision Regret
Score on Decision Regret Scale
Time frame: 3 months after return of genetic results
Parenting-Related Stress
Score on Parenting Stress Index
Time frame: 3 months after return of genetic results compared to baseline
Child Health-Related Stress
Score on Child Health Worry Scale
Time frame: 3 months after return of genetic results compared to baseline
Anxiety
Score on Generalized Anxiety Disorder-7
Time frame: 3 months after return of genetic results compared to baseline
Depression
Score on Patient Health Questionnaire-9
Time frame: 3 months after return of genetic results compared to baseline
Partner Relationship
Score on Kansas Marital Satisfaction Scale
Time frame: 3 months after return of genetic results compared to baseline
Partner Blame
Score on this novel measure
Time frame: 3 months after return of genetic results compared to baseline
Stigma
Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
Time frame: baseline, 3 months after return of genetic results
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Quality of Life score
Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"
Time frame: baseline, 3 months after return of genetic results