Genetics of Differences of Sex Development and Hypospadias

Not Applicable

Active, not recruiting

• Conditions: Hypospadias; Disorders of Sex Development
• Interventions: Genetic: Return of Genetic Results

• Registration Number: NCT03102554
• Lead Sponsor: Boston Children's Hospital

Brief 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.

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2017-03-27
• Study First Submitted QC: 2017-03-30
• Study First Posted: 2017-04-05
• Study Start: 2018-01-01
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-11
• Last Update Posted: 2024-06-12
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 300

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

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Exclusion Criteria

• Inability to provide informed consent

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Genetic Testing	Return of Genetic Results	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.

Primary Outcome Measures

Name	Time	Method
Decision Regret	3 months after return of genetic results	Score on Decision Regret Scale

Secondary Outcome Measures

Name	Time	Method
Anxiety	3 months after return of genetic results compared to baseline	Score on Generalized Anxiety Disorder-7
Partner Blame	3 months after return of genetic results compared to baseline	Score on this novel measure
Stigma	baseline, 3 months after return of genetic results	Score on Questionnaire, "Stigma Related to Having a Child with a Urogenital Condition"
Parenting-Related Stress	3 months after return of genetic results compared to baseline	Score on Parenting Stress Index
Child Health-Related Stress	3 months after return of genetic results compared to baseline	Score on Child Health Worry Scale
Partner Relationship	3 months after return of genetic results compared to baseline	Score on Kansas Marital Satisfaction Scale
Depression	3 months after return of genetic results compared to baseline	Score on Patient Health Questionnaire-9
Quality of Life score	baseline, 3 months after return of genetic results	Score on Questionnaire, "Quality of Life Related to Having a Child with a Urogenital Condition"

Trial Locations

Locations (1)

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States