Genetics of Differences of Sex Development and Hypospadias

NCT03102554 | Enrolling By Invitation

• 1 other identifier: IRB-P00012912
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 1

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.

Conditions

Disorders of Sex Development; Hypospadias

Keywords

Exome Sequencing

Outcome Measures

Primary Outcomes (1)

• Decision Regret

  Score on Decision Regret Scale

  3 months after return of genetic results

Secondary Outcomes (8)

• Parenting-Related Stress

  3 months after return of genetic results compared to baseline

• Child Health-Related Stress

  3 months after return of genetic results compared to baseline

• Anxiety

  3 months after return of genetic results compared to baseline

• Depression

  3 months after return of genetic results compared to baseline

• Partner Relationship

  3 months after return of genetic results compared to baseline

Study Arms (1)

Genetic Testing

EXPERIMENTAL

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

Interventions

Return of Genetic Results GENETIC

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

Genetic Testing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Inability to provide informed consent

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

MeSH Terms

Conditions

Disorders of Sex Development; Hypospadias

Condition Hierarchy (Ancestors)

Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Gonadal Disorders; Endocrine System Diseases; Penile Diseases; Genital Diseases, Male; Genital Diseases

Study Officials

• Yee-Ming Chan, MD, PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Pediatrics

Model Details: Longitudinal cohort

Study Record Dates

• First Submitted: March 27, 2017
• First Posted: April 5, 2017
• Study Start: January 1, 2018
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: June 13, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)