[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT03102554":3,"trial-entities:NCT03102554":97,"trial-summary:NCT03102554":100},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":21,"study_type":23,"primary_purpose":24,"phases":25,"enrollment_info":27,"interventions":30,"primary_outcomes":37,"secondary_outcomes":42,"sex":69,"minimum_age":70,"maximum_age":70,"healthy_volunteers":15,"eligibility_criteria":71,"std_ages":77,"locations":81,"central_contacts":90,"overall_officials":91,"references":95,"see_also_links":96},"NCT03102554","IRB-P00012912","Genetics of Differences of Sex Development and Hypospadias","Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias","ENROLLING_BY_INVITATION","2027-12","2026-07","2026-07-22","2018-01-01","Boston Children's Hospital","OTHER",false,"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\u002For 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\u002Fguardians of children with DSD\u002Fhypospadias and have them complete questionnaires to assess the impact of receiving these results.",[19,20],"Disorders of Sex Development","Hypospadias",[22],"Exome Sequencing","INTERVENTIONAL","DIAGNOSTIC",[26],"NA",{"count":28,"type":29},300,"ESTIMATED",[31],{"type":32,"name":33,"description":34,"armGroupLabels":35},"GENETIC","Return of Genetic Results","The results of testing for genetic causes of DSD\u002Fhypospadias will be returned to parents of subjects who elect to receive these results.",[36],"Genetic Testing",[38],{"measure":39,"description":40,"timeFrame":41},"Decision Regret","Score on Decision Regret Scale","3 months after return of genetic results",[43,47,50,53,56,59,62,66],{"measure":44,"description":45,"timeFrame":46},"Parenting-Related Stress","Score on Parenting Stress Index","3 months after return of genetic results compared to baseline",{"measure":48,"description":49,"timeFrame":46},"Child Health-Related Stress","Score on Child Health Worry Scale",{"measure":51,"description":52,"timeFrame":46},"Anxiety","Score on Generalized Anxiety Disorder-7",{"measure":54,"description":55,"timeFrame":46},"Depression","Score on Patient Health Questionnaire-9",{"measure":57,"description":58,"timeFrame":46},"Partner Relationship","Score on Kansas Marital Satisfaction Scale",{"measure":60,"description":61,"timeFrame":46},"Partner Blame","Score on this novel measure",{"measure":63,"description":64,"timeFrame":65},"Stigma","Score on Questionnaire, \"Stigma Related to Having a Child with a Urogenital Condition\"","baseline, 3 months after return of genetic results",{"measure":67,"description":68,"timeFrame":65},"Quality of Life score","Score on Questionnaire, \"Quality of Life Related to Having a Child with a Urogenital Condition\"","ALL",null,{"inclusion":72,"exclusion":74,"raw_text":76},[73],"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",[75],"Inability to provide informed consent","Inclusion Criteria:\n\n* 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\n\nExclusion Criteria:\n\n* Inability to provide informed consent",[78,79,80],"CHILD","ADULT","OLDER_ADULT",[82],{"facility":13,"city":83,"state":84,"zip":85,"country":86,"geoPoint":87},"Boston","Massachusetts","02115","United States",{"lat":88,"lon":89},42.35843,-71.05977,[],[92],{"name":93,"affiliation":13,"role":94},"Yee-Ming Chan, MD, PhD","PRINCIPAL_INVESTIGATOR",[],[],{"nct_id":4,"conditions":98,"biomarkers":99},[19,20],[],{"nct_id":4,"found":15,"summary":70,"prompt_version":70}]