Genetics of Differences of Sex Development and Hypospadias

June 11, 2025 updated by: Yee-Ming Chan, Boston Children's Hospital

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.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Estimated)

300

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Genetic Testing
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.
Genetic: Return of Genetic Results
The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Decision Regret
Time Frame: 3 months after return of genetic results
Score on Decision Regret Scale
3 months after return of genetic results

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Boston Children's Hospital

Investigators

  • Principal Investigator: Yee-Ming Chan, MD, PhD, Boston Children's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2018

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

March 27, 2017

First Submitted That Met QC Criteria

March 30, 2017

First Posted (Actual)

April 5, 2017

Study Record Updates

Last Update Posted (Actual)

June 13, 2025

Last Update Submitted That Met QC Criteria

June 11, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB-P00012912

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Disorders of Sex Development

Clinical Trials on Return of Genetic Results

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Madagascar

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe