A difference in sex development (DSD) is a mismatch between a child’s chromosomes or genetic material and the appearance of the child’s genitalia. DSDs can appear at any age – prenatally, during infancy, during childhood or even during adolescence. The majority of DSD patients are seen after birth because they present with atypical genitalia and need care from specialists in many different fields.
In this Q&A, Dr. Patricia Fechner, medical director of the Differences in Sex Development Program at Seattle Children’s, outlines one of the largest and most comprehensive DSD teams in the nation dedicated to compassionate care for our patients with DSD and their families.
Q: How does Seattle Children’s DSD Program team approach care?
We know that going through a DSD diagnosis can be very difficult for our patients and families. Some may experience shame or believe they have to hide it. They may feel cut off or isolated from their communities. Others may feel confused, uncertain or a variety of other emotions. DSDs are lifelong conditions that are not shameful but may be private. The DSD Program team works to ensure all of our patients and their family members are supported from the moment they are referred to us to their final follow-up visits.
One of the ways we show our support is by taking a unified approach to care. On the very first visit, patients and their families meet with a team of three or four expert providers from different specialties, as well as medical staff, who ask questions and gather key information. Our team then steps out of the room to discuss options for the best approach and determine next steps. This allows us to deliver one clear, compassionate recommendation to the family at the very beginning of their medical journey. Our unified approach surrounds the family with support, while also avoiding confusion or mixed messages that may come from separate meetings with multiple providers. It also saves the patient and family the time and stress associated with multiple appointments, telling their stories multiple times and having multiple physical exams.
Additionally, the DSD Program utilizes Seattle Children’s Child Life department, a team dedicated to ensuring families have a positive experience at the hospital. A Child Life specialist attends patient exams so that patients can relax and feel at ease during these sometimes-stressful visits. This has made a big impact on patients and their families and has allowed us to reduce stress and tension associated with the clinic visit.
All of this to say, we are committed to ensuring our patients and family receive the very best compassionate and evidence-based care.
Q: What is unique about Seattle Children’s DSD Program team?
What sets us apart is our long history of compassionate care, our unique expertise and our multidisciplinary team approach.
Although DSD conditions are rare, Seattle Children’s DSD team has extensive experience in caring for children with DSD and their families. Our team of compassionate and collaborative providers has been working together since 2008 to diagnose and treat any DSD condition. This makes us one of the first pediatric hospitals in the country to address and treat DSDs. We’ve built our knowledge and expertise in this area for more than a decade.
Many of our surgeons have been trained in surgery specific to DSDs, such as feminizing restoration and urogenital reconstruction, specifically for differences in sex development, which can include congenital adrenal hyperplasia and severe hypospadias.
The DSD Program team is made up of physicians and staff with expertise in pediatric and reproductive endocrinology, genetics, urology, gynecology and child and adolescent psychology. Based on a patient’s unique needs, we work closely with other Seattle Children’s specialists in fields such as cytogenetics, bioethics, maternal and fetal medicine, adolescent medicine, radiology and pediatric surgery. Our team will meet frequently with patients and families to explain what we are testing for and to give clinical evaluation results. We welcome and encourage questions and input from the family in order to facilitate shared decision-making — parents are a critical part of our team.
Our care doesn’t stop when a patient leaves the hospital or clinic. Our multidisciplinary care team monitors patients throughout their childhood and adolescence to ensure they grow into healthy, happy adults.
Q: How do you diagnose a child with a DSD?
Diagnosis begins by compiling information from a patient’s medical history and physical exam. The next step is to use hormonal and genetic testing to identify and confirm a diagnosis. Radiologic studies may also be informative.
The patient’s endocrinologist uses hormonal testing, such as testosterone or follicle-stimulating hormone (FSH) levels in the blood, to identify the cause or set of causes of the DSD. FSH plays an important part in the development of the reproductive system. If hormonal testing points to a specific diagnosis, then a single gene test, which looks for changes in only one gene, is ordered to confirm the diagnosis. If, on the other hand, hormonal testing leads to a diagnosis that could be due to many different genes, then we use a DSD gene panel, which allows us to test 56 genes at once, to confirm the diagnosis and to see if there’s a variant causing the DSD.
Once we have an accurate diagnosis, we talk with the family about the options for treatment. These options vary and may include medications, surgery or no intervention at all, depending on the nature of the child’s condition.
“What excites me most about being able to diagnose a patient is that it gives closure to families, and it provides us information about recurrence risk and what could happen long term, such as at puberty,” Fechner said.
New treatments and research on the horizon
Dr. Fechner is participating in multicenter trials looking at new treatments for congenital adrenal hyperplasia. She is very enthusiastic about this work as there have been no new medications for the last 60 years, and now there are clinical studies investigating new medications, which can improve the care of children and adults with congenital adrenal hyperplasia.
Dr. Nicolas Fernandez is working on a research project aimed to improve hypospadias outcomes by exploring new approaches to better assess structural and genetic components of the tissue used for surgery.
Dr. Fechner is excited about the future of the DSD Program at Seattle Children’s. She and the DSD team continue to explore and expand the range of innovative treatment options, while providing compassionate and evidence-based care to all patients and their families.