The Disorders of Sex Development program offers patients the most innovative treatments in the field and guides families as they face some of the most difficult decisions imaginable.
One doctor says the baby is a boy. Another says it’s a girl. One doctor is talking about chromosomes. Another mentions genitalia. How is a parent supposed to make sense of it all?
“In many parts of the country, parents of children with a disorder of sex development get bounced around between specialists and find themselves struggling to make sense of differing opinions,” says Dr. Margarett Shnorhavorian, pediatric urologist and surgical director of Seattle Children’s Disorders of Sex Development (DSD) program, which was launched in 2010.
But not in the Pacific Northwest. Children’s DSD program brings together experts in urology, endocrinology, genetics, psychology, adolescent medicine, bioethics and perinatology to determine the best approach for these complex conditions.
“There isn’t necessarily one right answer for a patient with a disorder of sex development,” says Dr. Margaret Adam, a geneticist for the program. “We have to work with the parents to make the best decision we can with the available data. It’s exceptionally difficult for parents.”
We have to work with the parents to make the best decision we can with the available data. It's exceptionally difficult for parents." ~ Dr. Margaret Adam, geneticist
Thanks to advances in prenatal diagnostics, the team can provide care and guidance to parents who are expecting a child with a disorder of sex development. Sometimes, the disorder isn’t discovered until a child’s birth.
For patients with certain conditions, the disorder isn’t apparent until they find that puberty is not progressing normally. These conditions include Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and androgen insensitivity syndrome.
Often, the team follows patients from their first days of life all the way through adolescence. They treat infants with ambiguous genitalia, atypical genitalia, sex chromosome abnormalities and sex chromosomes that do not match the external genitalia.
A singular source for information
Having a dedicated team gives parents the chance to hear the perspectives of different disciplines when evaluating treatment options. For the specialists, it’s a chance to build shared expertise about these conditions.
“It makes a big difference to have a cohesive team,” says Dr. Patricia Fechner, pediatric endocrinologist and medical director of the program. “In the field of endocrinology, the standard of care for DSD calls for consults from multiple disciplines. However, at many institutions the process is more ad hoc and the endocrinologist consults only with the physician from each discipline who happens to be on call at the time, and not necessarily with someone who has expertise in this area.”
Making decisions can be challenging. Over the course of a patient’s childhood, families may have to decide about multiple corrective surgeries, hormonal treatments and promising new experimental procedures – while considering the long-term psychological and reproductive implications.
“We try to learn about the family’s religious and cultural beliefs and find out what is important to them,” says psychologist Dr. Elizabeth McCauley. “Some families may be focused on preserving fertility, while others want to minimize the number of surgeries and interventions.”
Decisions about gender assignment can be especially difficult for families. The team encourages the family to express their preferences to ensure they are comfortable with any decisions.
“We make sure to get a 360-degree view of the child by doing a thorough evaluation with every discipline,” says Shnorhavorian. “After we have gathered all the data, we present the options to the family, explain the strengths and weaknesses of each approach, and then support them in their decision.”
More systematic follow-up and longitudinal research is critically needed in this field to understand and improve outcomes over a child's lifetime." ~Dr. Margarett Shnorhavorian, urological surgeon
Making the first decisions after birth
For each patient, the specialists must establish the genetic sex, determine what hormones are being produced and assess the urological structures to determine the sex of rearing.
The team sees most families in clinic during the first days or weeks of a child’s life, but it may take a week – or even several weeks – to gather enough information to make a decision about sex assignment in these complex cases.
“It’s a very intense period for the family,” McCauley says, who helps families navigate some of the stressful details – like what to tell friends and family who are calling to congratulate them – and provides guidance as they tackle the big questions about gender assignment and a long-term plan of care.
A long-term approach to care
Families meet with all the specialists at the same time to craft a long-term plan of care that serves as a roadmap for a child’s early years. The Children’s team offers all surgical and treatment options currently available for young children and adolescents. Patients often have corrective surgeries early in childhood and then return for hormonal treatment in adolescence.
“The goal of surgery in young children is to make the correction while keeping all potential surgical options open for the future,” says Shnorhavorian. “It’s a radically different approach from the way this field handled these surgeries in the past. It used to be common for one doctor to make a permanent decision about gender assignment unilaterally.”
Many diagnoses have implications for puberty and beyond, and as children mature they have questions about their conditions and how to cope with them.
“We encourage 9- and 10-year-olds to come in before the onset of puberty,” says genetic counselor Linda Ramsdell. “Parents want to know how to discuss their child’s condition with them, and we can provide guidance to the parent or share age-appropriate information with the child. Families feel empowered that we don’t treat this as a secret, and that we’re matter-of-fact about it.”
Receiving a new diagnosis in adolescence
Some adolescent patients come to the clinic for the first time when they find that puberty is not progressing normally.
“The first concern is to make sure the adolescent understands their diagnosis and its implications in terms of pubertal development, reproduction and sexual function,” McCauley says. “In some cases we also need to make sure the patient is comfortable with their current gender identity. Adolescents usually have strong opinions about wanting to move forward as a girl or a boy, and they want to have whatever interventions are needed to continue down that path.”
Some female patients – such as adolescents diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome or androgen insensitivity syndrome – were born without a uterus or the upper part of their vagina. The team offers innovative, non-invasive treatments, such as dilation to extend the vagina, and provides mental health counseling if necessary.
“They generally don’t have questions about gender identity, but they may be grieving or worried about their diagnosis, which is totally appropriate,” McCauley says. “I touch base with them to see how they’re coping and find out if they would benefit from mental health services.”
Advancing care for patients with DSD
Creating the clinic has laid the foundation for research that will improve the quality of care – and the quality of life – of patients with disorders of sex development. A project with the University of Michigan is testing a survey that measures the quality of life of patients and their parents.
“Having an organized clinic where we can follow patients over time makes it easier to invite patients to participate in long-term research projects,” says Shnorhavorian. “More systematic follow-up and longitudinal research is critically needed in this field to understand and improve outcomes over a child’s lifetime.”