Current Environment:


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.


Disorders of Sex Development, Hypospadias

Recruitment Status

Active, not recruiting

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.

Eligibility Criteria

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


Intervention Type

Intervention Name


Return of Genetic Results


Not Applicable



Min Age


Max Age


Download Date

June 12, 2024

Principal Investigator

Yee-Ming Chan

Primary Contact Information

For more information on this trial, visit


For more information and to contact the study team:

Genetics of Differences of Sex Development and Hypospadias NCT03102554