Genetics of Disorders of Sex Development and Hypospadias

This study seeks to understand the genetic causes of conditions that affect the development
of the genitals, such as disorders 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