Current Environment:

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

Recruitment Status

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

Intervention Type

Intervention Name

Genetic

Return of Genetic Results

Phase

Not Applicable

Gender

All

Minimum Age

N/A

Maximum Age

N/A

Download Date

January 13, 2022

Principal Investigator

Yee-Ming Chan

Primary Contact Information

Alayna Dutcher, BA

6173550741

alayna.dutcher@childrens.harvard.edu

For more information on this trial, visit clinicaltrials.gov.

Contact

For more information and to contact the study team: