Division of Urology

Disorders of Sex Development Program

Our Disorders of Sex Development (DSD) Program provides evaluation and treatment services for children with ambiguous genitalia and identified DSD.

These conditions include:

Although these conditions are rare, the team at CHOP has extensive experience in caring for children with DSD and their families. We follow more than 200 children with these diagnoses, and we diagnose about 10 new children with DSD each year. Our team is committed to providing the best care possible for your child and family.

The team

Our team is led by Thomas Kolon, MD, of the Division of Urology, and is comprised of colleagues in urology, endocrinology, genetics and pediatric psychology. We believe a multidisciplinary team is critical to providing the best care for children with DSD. We work together to ensure your child’s evaluation is efficient and thorough, and answer questions about your child’s condition as quickly as possible. Our psychologist will be available to you and your family during the diagnostic process and throughout your child’s care at CHOP.

Our process

Our team is usually asked to consult with families when a newborn baby is born with ambiguous genitalia. There are many reasons why the genitalia may not quickly be identified as “typically male” or “typically female.” Our team will evaluate the baby’s anatomic and medical condition so that an accurate diagnosis can be achieved.

One of our team members, usually either a urologist or an endocrinologist, will serve as the lead clinician during a consultation. Our team will meet frequently with your family to explain what we are testing for and to give evaluation results. We welcome and encourage questions and input from the family – parents are a critical part of our team.

Treatment

Once we have an accurate diagnosis, we will talk with your family about the options for treatment. These options vary, and may include medications, surgery or no intervention at all, depending on the nature of your child’s condition.

What if my child is older?

Every year we see older children, often in early adolescence, who are referred for evaluation because puberty has not started or progressed as expected. Our process of evaluation is similar to that done for infants, but is usually carried out over the course of several outpatient appointments.

Long-term care

For many children with DSD, long-term medical and surgical care may not be necessary. Common exceptions are children with congenital adrenal hyperplasia (CAH) who will require lifelong endocrine care and children who will require hormone replacement. All children with DSD, however, may be at greater risk for psychosocial distress over time. For that reason we recommend ongoing, routine follow-up with our psychologist on at least an annual basis to identify concerns early, address the child’s questions throughout childhood and adolescence, and provide needed support about body image, gender identity and peer interactions (e.g., dating), as appropriate.

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