Genetics of Differences of Sex Development and Hypospadias

Enrolling by invitation · Not applicable

Conditions studied: Disorders of Sex Development, Hypospadias

In brief

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.

Key facts

Study ID

NCT03102554

Run by

Boston Children's Hospital

People needed

300

Starts

2018-01-01

Expected to finish

2027-12-01

Last updated by the study team

2026-07-22

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

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

Where it is running

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

Full record on ClinicalTrials.gov

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