Genetics of Differences of Sex Development and Hypospadias
Genetics of Differences of Sex Development and Hypospadias
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.
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.
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