Genetics of Differences of Sex Development and Hypospadias

NCT ID: NCT03102554

Last Updated: 2025-06-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Clinical Phase

NA

Total Enrollment

300 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-01-01

Study Completion Date

2026-12-31

Brief Summary

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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

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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.

Conditions

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Disorders of Sex Development Hypospadias

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Longitudinal cohort
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

Return of Genetic Results

Intervention Type GENETIC

The results of testing for genetic causes of DSD/hypospadias will be returned to parents of subjects who elect to receive these results.

Interventions

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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.

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Yee-Ming Chan

Associate Professor of Pediatrics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Yee-Ming Chan, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

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Boston Children's Hospital

Boston, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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IRB-P00012912

Identifier Type: -

Identifier Source: org_study_id

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