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.
Conditions
Disorders of Sex Development, Hypospadias
Recruitment Status
Active, not recruiting
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 also build a tissue bank of blood, urine, and discarded tissues from surgeries. 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.
Eligibility Criteria
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
Intervention
Intervention Type
Intervention Name
Genetic
Return of Genetic Results
Phase
Not Applicable
Gender
All
Min Age
N/A
Max Age
N/A
Download Date
July 24, 2023
Principal Investigator
Yee-Ming Chan
Primary Contact Information
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: