Transcription:
Differences in Sex Development (DSD, or "Intersex") Clinic

Melanie Cole (Host): Our topic today is the differences in sex development, DSD, or intersex clinic at St. Louis Children's Hospital, and my guests are Dr. Christopher Lewis, he's a Washington University pediatric endocrinologist and the Medical Director of the DSD Clinic, and Dr. Abby Hollander. She's a Washington University pediatric endocrinologist, and they are both at St. Louis Children's Hospital. Welcome to the show, Doctors. So I'd like to start with Dr. Lewis. What does differences in sex development, or DSD, or in some cases intersex; what does that mean?

Dr. Christopher Lewis, MD (Guest): The differences in sex development or DSD is really a medical term that refers to a group of conditions that affect person's development of chromosomal, hormonal, gonadal, or anatomic stress. A lot of people ask us how common are DSDs, and that's really hard for us to say because to provide a number, we would need to really have a better consensus of what counts as different enough from typical to be labeled as a DSD. We know that some DSDs are pretty rare while other DSDs are more common. Our closest estimate is that about one in every 2,000 births involve a child whose genitals look different enough to make assigning the child's sex unclear, but if we count all types of sex anomalies, then DSDs are probably more common than what people think, and probably less than that one in 2,000. Some studies suggest that if we include any sort of anomaly related to sex or gonads or chromosomes that that could be closer to one in 100 to one in 150.

Melanie: Dr. Lewis, I'm sticking with you for a second. Do we know what causes DSD? And are the variables that impact gender development in humans, are they difficult to evaluate?

Dr. Lewis: So when we look at the causes of DSDs, there are a variety of reasons why someone may present with that. Sometimes it is related to the genetics in that individual, other times it's related to how their body works with their hormones. Other times it's how the function of their brain or their testicles or gonads or ovaries work in terms of making sex hormones.

There's not just one reason why someone may have a DSD. When someone comes to us or is referred to us for a concern related to genital development, we do a lot of lab work and imaging to really explore what could be the cause, because there isn't just one thing that causes all differences in sex development.

Dr. Abby Hollander, MD (Guest): And I would like to add that we have been learning more and more about the process of fetal development of the genitals. We know that as fetuses start their early life as little embryos, there is tissue that will become the gonads in each individual at the beginning. That tissue could become either a testis or an ovary, so we call that a biopotential gonad. And then under the influence of certain genes and hormones, that initial development into either testis or ovary takes place, and then additional genes are needed to cause the production of hormones from the gonad that leads to the development of the internal and external genitalia so that at the end of fetal development, an individual will appear either feminine or masculine depending on how all of those things work together.

And so learning what is involved in all of those steps of development help us then work backwards when things appear atypical to find out where in the chain of events things may have gone on a different path.

Melanie: Dr. Hollander, when do they appear atypical? When are these differences detected?

Dr. Hollander: Sometimes the abnormalities may be detected prenatally. So some women may have an amniocentesis or another test to learn the chromosome makeup of their child, and may have information that the chromosomes are either XX, which is typical female, or XY, typical male. But then at the time that an ultrasound is done to see if there are any major anomalies with the baby that the appearance of the genitals is not consistent with what they know the chromosomes to be, or sometimes a prenatal ultrasound will just have abnormal appearance of the genitalia that it doesn't look entirely male or female. But many times nothing is really suspected or detected until after the baby is born.

There are other problems that fall under the umbrella of DSD that may not show themselves until even puberty. So sometimes things are not really acted on until later in childhood or even adolescence.

Melanie: How interesting. And Dr. Hollander, I'm sticking with you for just one minute. How did the DSD Clinic at St. Louis Children's Hospital come about? Tell us a little bit about the evolution of it.

Dr. Hollander: Well in the early 2000's, it was clear that these complicated babies needed help of many different sub-specialty services at St. Louis Children's Hospital. Sometimes surgery was needed that would involve pediatric urology, or pediatric gynecology. There was genetic testing that would be needed that involved pediatric genetics. Hormone problems could be present, which is where we in pediatric endocrinology became involved. But also, the families needed a lot of psychosocial support, so involvement of our mental health providers, pediatric psychology and psychiatry became important parts of our team.

And initially we would just meet monthly to discuss new research or interesting cases, but we eventually wanted to form a multi-disciplinary clinic so that patients could see multiple different doctors with just one trip to St. Louis Children's. And after about five or six years of preparation, we finally opened our multi-disciplinary clinic in March of 2018. And so we've been having the clinic monthly since then.

Melanie: Dr. Lewis, speak about some of the treatments that are associated, as Dr. Hollander just stated, this multi-disciplinary aspect of care, and what's needed in this clinic. So speak about some of those unique ways that they work together, whether it's urology and genetics, or psychiatry, or cytogenetics. How do all of these specialties work together? Tell us a little bit about that.

Dr. Lewis: Well as Dr. Hollander mentioned, we are a multi-disciplinary treatment care team, and the model of a multi-disciplinary team is very widely known to provide the highest quality care when we're talking about complex medical conditions. Quality care depends on careful coordination between multiple treatments as well as multiple providers, and the exchange of technical information and regular communication between all the providers and physicians, disciplines involved in that treatment care plan.

Sometimes that plan is mental health and psychosocial support. Sometimes that care involves medications or hormonal replacement therapies or sometimes surgical intervention. And so we all talk about these therapy options as a team in order to take care of each individual patient to the best of our capability.

There is no one-size-fits-all treatment program for any individual patient, so we take each patient's individual clinical course into consideration to make our management decisions and make those decisions as a team to provide the best quality care.

Dr. Hollander: And I would like to add that one of the most complex aspects of these patients, particularly in the newborn period, is when the parents want to know, "Well is my child really a boy? Or really a girl?" Or making those decisions related to how the child will be raised. And the capability of the team to get together and evaluate all the information that is known about the anatomy, about the genetics, about the hormones, about a specific diagnosis if there is one, long-term follow-up, then the team can get together and provide a recommendation, and I think that most parents feel that this is a much more helpful approach than just taking advice from one single provider based on their own single opinion. They feel much more comfortable knowing that a large team of experts has evaluated their child thoroughly and comes up with a recommendation. And typically the decision about gender to raise the child is something that's done by the parents with the assistance of the medical team.

Melanie: So Dr. Hollander, what an interesting point that you make. And so as you're dealing with the parents and the parents' perception of and reactions to DSD, is this considered- when you're looking at all of this multi-disciplinary treatment, and does the impact of the treatment whether it's surgery or something to reduce the genital ambiguity, does this affect the psychological development of not only the child but the parents as well? The siblings? Is there a family force here?

Dr. Hollander: Yes, we certainly know that having a child with a DSD is a very stressful thing for a family, and that's why having psychosocial support is such a big part of our care, but there are religious aspects, there are cultural aspects, there are things that are very personal to the families that may impact their feeling about adapting to the situation with their child. And I think that addressing these aspects with the family is definitely part of providing the best care.

As Dr. Lewis mentioned at the beginning, the severe DSDs are not so common, and even in a big center like ours, we don't necessarily see enough of any specific type of DSD to make strong conclusions about the best types of care. And for that reason, we've involved ourselves with a big network of institutions called the DSD Translational Research Network, DSDTRN, which is comprised of currently sixteen different institutions that combine all of our information about all of the different patients that we see so that we can establish best care practices and see what ultimately results in the best outcome for the patients.

Dr. Lewis: I would like to add that probably one of the most crucial components of that multi-disciplinary team that we were talking about is the family. We take the family's thoughts, concerns, considerations, worries, and desires as a part of the management plan and fold them into those decision making moments when we're taking care of a patient, and even bringing the patient into those decision making treatments, specifically when we're talking about surgical interventions. Because we do not recommend surgical interventions that are not medically necessary at that time. We think it is best for patients that are going to one day potentially undergo surgical changes to their genitalia to be a part of that conversation that we're not making the decision of how their genitals should be surgically altered without them being able to be a part of that decision, except in a situation where it would be urgently and medically emergent to do those decisions beforehand.

Melanie: What an interesting point and an interesting fact about your center. Dr. Lewis, what support services do you offer patients and their families whether it's from the clinic or from the St. Louis Children's Hospital's Family Resource Center? Speak about what you offer them as far as services.

Dr. Lewis: So like Dr. Hollander was mentioning, part of our multi-disciplinary team is psychology and psychiatry. They provide mental health support, not only in the clinic, but can help outside of the clinic in their own clinical environment. And then they can also provide resources to mental health providers that are locally available wherever the family lives to further help with them so they're not dependent on coming to St. Louis if they live a distance that would be inaccessible for them to come to get the mental health support that this patient or family may need.

We provide them with information from our Family Resource Center about the condition if we have one available, and we also provide information to help patients connect to their community at large. So if there's a certain condition that has a support group, whether that be locally, regionally, or nationally, we can help facilitate connecting that family or that patient to that support group so they can talk to and meet other patients or families that may be going through the same situation or have gone through that process in the past. And it makes it a lot easier for families to talk to other persons that have sort of gone through the same journey that they're going through.

Melanie: Dr. Hollander, how has DSD care changed over the past ten to twenty years due to the increased ability to get long-term follow-up care on patients treated as children and the appreciation of how gender identity affects outcome?

Dr. Hollander: So there have been many changes. I think one of the biggest changes is how much more information is made available to the patients and their families all through the process. I think up until maybe the 1980's or so, there was a much more sort of paternalistic view of medicine in general that too much information was harmful to patients or parents, and so information would be withheld with the thought that that was making it easier for the family, when in fact we know now that for the most part that people want the most information that they can get so that they can make good informed decisions.

Additionally, when I was in training maybe twenty-five years ago, the focus of treatment of DSD was really to normalize the appearance of the baby to provide less stress on the parent. And we know now that that isn't a good decision making basis because that is not taking into consideration the future and the autonomy of the child. And so our focus is on providing the best medical care for the baby, and making sure that they are not medically at risk for any type of severe event, but to- as Dr. Lewis had mentioned, to delay any medically unnecessary surgery to late enough so that the patient him or herself can have some input into whether the surgery is done at all or the timing of that surgery and what the nature of that surgery might be. So in having the patient as the focal point of care rather than the parent I think has been an important change.

And then just the development of these multi-disciplinary teams has been really a big improvement so that there's good communication among all the providers for a given patient and it gives the patient the best opportunity to get well-coordinated care.

Melanie: So I'm going to give you each a chance to kind of wrap up and give us your summary as it were. So Dr. Lewis, I'd like to start with you. What else would you want a referring physician to know about the DSD Clinic and about the differences in sex development or intersex, about this condition as it were? And also what can a referring physician expect from your clinic?

Dr. Lewis: The referring physician should be aware that we have our multi-disciplinary team and clinic meet once a month, on the third Wednesday of every month. We accept referrals through our endocrine division, so you can call us at (314) 454-6051 to get in touch with the team to make a referral.

What to expect from us after a patient has been referred, is we would communicate as a team our thoughts and impressions on what may be going on with the patient, what options therapeutic, from a medical standpoint, surgical standpoint, mental health standpoint may or may not be appropriate at this time. And any other advice on what would be best in terms of gender rearing and support that this patient and family may need.

Melanie: Dr. Hollander, last word to you. Please let other physicians know what you would like them to know about what both of you do for a living and when they should consider referring.

Dr. Hollander: So our role in care of these patients is mainly involved in the patients who may have hormone deficiencies that could cause medical problems for them early in life, so that they may need medical treatments that need frequent laboratory monitoring and frequent medical visits to maintain the health of the child. Some of them may have mainly hormonal problems that will cause them difficulty only starting around puberty. They may need supplement to their own production of hormones to allow their body to change appropriately at puberty, things of that nature. But we also have sort of taken on the role to be the gatekeeper to welcome any kids with DSD or suspected DSD, so it is always okay to start if there's a concern that a child's genitalia may not have developed normally or may not be developing normally to start with a call to our endocrine clinic and we can then refer to our DSD Clinic as appropriate.

And we know that evaluation of the genitalia and discussion of problems in that area can be very confusing for patients and physicians, and our team is ready to take any referrals of patients that you think would benefit from our services, and we encourage you to get in touch with us whenever you need us.

Melanie: Thank you both so much for being on with us today. Really a fascinating topic, and thank you so much for all the great work that you're doing at St. Louis Children's Hospital. A physician can refer a patient by calling Children's direct physician access line at 1(800) 678-HELP. That's 1(800) 678-4357. You're listening to Radio Rounds with St. Louis Children's Hospital. For more information on resources available at St. Louis Children's Hospital, you can go to www.StLouisChildrens.org. That's www.StLouisChildrens.org. This is Melanie Cole, thanks so much for listening.