An interventional study of Return of Genetic Results in Disorders of Sex Development and Hypospadias, sponsored by Boston Children's Hospital. Enrolling by invitation at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-07-22.
Sponsored by Boston Children's Hospital · Not applicable, Interventional, and Diagnostic
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.
32 studies on the registry are indexed under Disorders of Sex Development; 7 are open to participants now.
This study's planned enrollment of 300 is above the median of 80 across 12 interventional studies indexed under Disorders of Sex Development.
Browse Disorders of Sex Development studies →Boston Children's Hospital is the lead sponsor of 608 studies on the registry; 147 are open to participants now.
Of its 32 completed or terminated interventional studies of FDA-regulated products, 19 (59%) have results posted.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
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.
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
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
Plan to share: No
No publications or documents are linked to this record.
Started Jan 2018 (actual). Primary completion is estimated for Dec 2027, 119 months after the start.
How these figures are worked out, and which studies are left out of them.
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No contact was published for this record. The registry link below has the sponsor’s details.
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Disorders of Sex Development →