Disorders of Sex DevelopmentNCT03102554
Genetics of Differences of Sex Development and Hypospadias
A study testing Return of Genetic Results in people with Disorders of Sex Development and Hypospadias, run by Boston Children's Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Disorders of Sex Development, Hypospadias
- What is being tested?
- Return of Genetic Results
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jan 2018to Dec 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Inability to provide informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
Official title: Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
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.
Read the 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.
- Conditions
- Disorders of Sex Development, Hypospadias
- Being tested
- Return of Genetic Results
- Keywords
- Exome Sequencing
- Medical subject headings
- Disorders of Sex Development, Hypospadias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Return of Genetic ResultsGenetic
The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.
| Study group | Role | What they receive |
|---|---|---|
| Genetic Testing | Experimental | 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. Receives: Genetic: Return of Genetic Results |
What is being measured
The primary outcome is the main question the study is designed to answer.
Decision Regret
Score on Decision Regret Scale
Measured: 3 months after return of genetic results
Secondary outcomes (8)
Parenting-Related Stress
Score on Parenting Stress Index
Measured: 3 months after return of genetic results compared to baseline
Child Health-Related Stress
Score on Child Health Worry Scale
Measured: 3 months after return of genetic results compared to baseline
Anxiety
Score on Generalized Anxiety Disorder-7
Measured: 3 months after return of genetic results compared to baseline
Depression
Score on Patient Health Questionnaire-9
Measured: 3 months after return of genetic results compared to baseline
Partner Relationship
Score on Kansas Marital Satisfaction Scale
Measured: 3 months after return of genetic results compared to baseline
Partner Blame
Score on this novel measure
Measured: 3 months after return of genetic results compared to baseline
Stigma
Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
Measured: 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"
Measured: baseline, 3 months after return of genetic results
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Apr 2017
- Study start1 Jan 2018
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Disorders of Sex DevelopmentStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Longitudinal cohort
- Masking
- None (open label)
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Yee-Ming Chan, Boston Children's Hospital
- Investigators
- Yee-Ming Chan, MD, PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03102554
- Sponsor's protocol ID
- IRB-P00012912
- Status last verified
- Jul 2026
- First submitted
- 27 Mar 2017
- Last updated
- 22 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
- ClinicalTrials.gov ID
- NCT03102554
- Acronym / sponsor ID
- IRB-P00012912
- Conditions
- Disorders of Sex Development, Hypospadias
- Keywords
- Exome Sequencing
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Study start
- 1 Jan 2018 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 5 Apr 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Longitudinal cohort
| Arm | Type | Receives |
|---|---|---|
| Genetic Testing | Experimental | Genetic: Return of Genetic ResultsSubjects 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- 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
Key exclusion criteria (1 listed)
- Inability to provide informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Return of Genetic ResultsThe results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results. | Genetic | Genetic Testing |
Primary outcome
Decision Regret
Time frame: 3 months after return of genetic results
Score on Decision Regret Scale
8 secondary outcomes
Parenting-Related Stress
Time frame: 3 months after return of genetic results compared to baseline
Child Health-Related Stress
Time frame: 3 months after return of genetic results compared to baseline
Anxiety
Time frame: 3 months after return of genetic results compared to baseline
Depression
Time frame: 3 months after return of genetic results compared to baseline
Partner Relationship
Time frame: 3 months after return of genetic results compared to baseline
Partner Blame
Time frame: 3 months after return of genetic results compared to baseline
Stigma
Time frame: baseline, 3 months after return of genetic results
Quality of Life score
Time frame: baseline, 3 months after return of genetic results
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jul 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Yee-Ming Chan, MD, PhD principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Return of Genetic Results in people with Disorders of Sex Development and Hypospadias, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 22 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Decision Regret (time frame: 3 months after return of genetic results). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jul 2026.