Disorders of Sex DevelopmentGeneticsDiagnostics and screeningChildren's healthGenetic
What this study is
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.
What's being tested
- Return of Genetic Results
Intervention · GENETIC
The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.
Study details
- Official title
- Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias
- Sponsor
- Boston Children's Hospital
- Conditions
- Disorders of Sex Development · Hypospadias
- Enrolling
- 300 people
- Starts
- 2018-01-01
- Est. completion
- 2026-12
- Design
- Open-label, single group
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedYou may qualify if
- 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
You can't join if
- Inability to provide informed consent
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openBoston Children's Hospital
Boston, Massachusetts, United States
Study team
Sponsor
Boston Children's Hospital
Study ID IRB-P00012912
Principal investigator
Yee-Ming Chan, MD, PhD
Boston Children's Hospital
Have questions? The record lists no central contact. Use Consider me and the site team can reach you, or find them through ClinicalTrials.gov ↗.
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.