Disorders of Sex Development, Hypospadias
Conditions
Keywords
Exome Sequencing
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 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
GENETICReturn 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.
Sponsors
Boston Children's Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Intervention model description
Longitudinal cohort
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Decision Regret | 3 months after return of genetic results | Score on Decision Regret Scale |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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" |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORYee-Ming Chan, MD, PhD
Boston Children's Hospital
Outcome results
None listed