Disorders of Sex Development Program

Having your child diagnosed with ambiguous genitalia or a disorder of sex development can be distressing. Our team at the Disorders of Sex Development (DSD) Program understands this and is committed to providing the best care possible for your child and family.

We take a multidisciplinary, team approach to diagnosing and treating children with ambiguous genitalia and DSD. Our team includes professionals from urology, endocrinology, genetics and pediatric psychology.

We evaluate and treat children with conditions that include:

  • Congenital adrenal hyperplasia (CAH)
  • Atypical development of the external genitalia (e.g., clitoromegaly or micropenis)
  • Complete or partial androgen insensitivity syndrome (AIS)
  • 5-alpha reductase deficiency
  • Incomplete development of sex anatomy (e.g., vaginal agenesis, gonadal agenesis, or aphallia)
  • Sex chromosome anomalies (e.g., Turner Syndrome, Klinefelter Syndrome, sex chromosome mosaicism)
  • Disorders of gonadal development (e.g., ovotestes)

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.

The team

We believe a multidisciplinary team is critical to providing the best care for children with DSD. Our team includes experts from urology, endocrinology, genetics and pediatric psychology. We work together to evaluate your child efficiently and thoroughly, and answer questions about your child’s condition as quickly as possible. Our psychologist is available to you and your family during the diagnostic process and throughout your child’s care at CHOP.

Your child's evaluation

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.

We also see older children who are referred for evaluation because puberty has not started or progressed as expected. Our process of evaluation is similar to what we do for infants, but is usually carried out over the course of several outpatient appointments.

One of our team members, usually 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.

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.

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 at least yearly 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.