Picture this: you’ve just learned that your newborn has internal organs that seem to indicate maleness and external organs that seem to indicate femaleness. It’s not as uncommon as it sounds, but it is an issue fraught with complexity and social trauma. If it’s one your family is facing, you have a world-class resource in your own backyard.
As surgical director of the Disorders of Sexual Development (DSD) program at Seattle Children’s Hospital, Dr. Margarett Shnorhavorian leads a team of specialists who are pioneering a multidisciplinary, multidimensional approach to treating and caring for children born with ambiguous genitalia. Seattle Children’s is the only medical center in the region, and one of few in the world, dedicated to the practice. This isn’t because Seattle has more instances of DSD, but because an institution like Seattle Children’s attracts certain specialists that other hospitals simply can’t.
The DSD program has existed for more than 25 years, but Seattle Children’s opened the DSD clinic in late 2009 because it recognized a growing need—patients come mainly from the Northwest and Alaska but also from many foreign countries—and wanted to build on its quarter-century of ad hoc treatment. “We are light years ahead in terms of management of these patients,” Shnorhavorian says. “It goes beyond the genitalia. It incorporates looking at the whole child and the family.”
The spectrum of sexual development issues ranges from minor to severe. Hypospadias, for example, a birth defect found mostly in boys in which the opening of the urethra is not at the tip of the penis, is a fairly common condition that can be corrected in an outpatient procedure. It is one of Shnorhavorian’s most routine surgeries. About one in 250 boys is born with hypospadias in the U.S. each year. (In 2009, Seattle Children’s performed more than 800 procedures related to DSD; the most common were to repair hypospadias, undescended testes and hernias.)
The most severe cases of DSD, says Shnorhavorian, involve children born with both male and female reproductive organs. “Sometimes these [cases] are noted in utero via ultrasound findings where the chromosomes say ‘boy,’ but the ultrasound can’t find the boy parts,” she says. Shnorhavorian cautions, however, that genetics is only one piece of a complex puzzle. There is a host of factors to consider: hormone levels, determining if the gonads will develop into testes or ovaries, and whether the child will develop as a boy or a girl. Beyond that are a family’s cultural and religious beliefs. In some families, fertility preservation is of paramount concern; for others, limiting the number of surgeries takes priority. For these reasons, ethical considerations abound, and the Seattle Children’s DSD clinic taps specialists in clinical psychology, genetics, genetic counseling, endocrinology, adolescent gynecology, perinatology, nursing and bioethics.
At other medical centers across the country, when a child is born with ambiguous genitalia, he or she might shuttle between two specialists at the most. “It’s pieces of the puzzle, but no one is putting it together,” Shnorhavorian says. “This is really unique....We recognize that medical disease in the 21st century is much more complicated.”
To date, her most advanced procedure involved reconstructing the vagina of a young woman in her late teens, using buccal mucosa, a membrane from the inside of the cheek. In the most extreme cases, many experts now urge delaying gender-defining surgery for as long as is considered healthy and, if possible, so the child can be involved in the decision. “This is why we utilize a team of experts in our approach to providing the best possible care for each patient and their family,” Shnorhavorian says.
For parents of children born with DSD, the period right after birth can be agonizing as they wait for specialists to independently assess not only the genetic sex of the newborn, but the urological status and the hormonal situation in order to help determine the sex of rearing. Consensus among experts is not always easily reached, which means parents may face the reality that there isn’t one right answer. Meanwhile, scientific advances in genetics, endocrinology, urology and psychology are expanding the scope of DSD. In the past, children born with ambiguous genitalia were lumped together in a category known as “intersex.” Today, says Shnorhavorian, “there is greater recognition of the spectrum with all its complexities,” including new genetic studies and hormonal evaluations to assess patients.
Shnorhavorian, 37, who is an assistant professor of urology at the University of Washington School of Medicine, didn’t wake up one day and decide to become a pediatric urologist. “It chose me,” she says. “My dad was a mechanic, and I loved...understanding how things worked.” Her fascination with form and function has only increased over time. And while most of the surgeries and procedures Shnorhavorian is involved in are not life saving, they are unequivocally life changing. “They are focused on quality of life, on preserving the right of a child to become a father one day or enabling a [future] mother to have intimate relationships. That,” she says, “is the essence of being human."
Seattle Children’s Hospital
DSD support group: seattlechildrens.org/clinic-programs/support-groups/
Disorders of sexual development: dsdguidelines.org