Ep. 44: Confronting Knowledge Gaps in Intersex Health Care

Welcome to the reboot of The Undark Podcast, which will deliver — once a month from September to May — a feature-length exploration of a single topic at the intersection of science and society. In this episode, join journalist Liam McBain and podcast host Lydia Chain as they investigate the complex ethics behind the operations performed on intersex infants, and the persistent gaps in knowledge on intersex health care.

Below is the full transcript of the podcast, lightly edited for clarity. You can also subscribe to The Undark Podcast at Apple Podcasts, TuneIn, or Spotify.

Catherine Graffam: So, my studio is filled with a lot of paintings because I’m preparing for a couple of shows. These are all self-portraits. A lot of my work has abstraction or deconstruction of facial features.

Liam McBain: I meet Catherine Graffam in her attic apartment in Brookline, Massachusetts, a tree-lined suburb of Boston. She’s a painter and preparing for a gallery show later that day. Her studio is scattered with oil paints and wood panels, mostly filled with recreations of her own face. One painting she holds up to me shows her face on two planes, as if it were sliced in half.

Catherine Graffam: It’s rooted in still finding it difficult to look at my own image. And I think that kind of started when, I [began] having body image issues resulting from being intersex. I had found out when I was 16 that I had been operated on when I was a baby and realized that there was complications from that surgery that nobody knew about.

Lydia Chain: This is the Undark Podcast. I’m Lydia Chain. Sex is a combination of a person’s chromosomes, their hormone levels, the shape of their genitals, if they have ovarian tissue, or testicular tissue, or both, or neither. And for some people, those traits don’t coalesce to check off a neat, binary male or female box. Depending on who is included in the definition of intersex, estimates for how many people are affected range from 1 in 4,500 to 1 in 100. In the U.S., that’s between 72,000 and 3.3 million people. While some people discover they’re intersex later in life, many people present as intersex at birth.

Since the ‘60s, it’s been a norm to operate on intersex babies to make them appear more typically male or female, whether or not that was medically necessary. Many people, like Catherine Graffam, suffered complications, leading to a wave of advocacy that pushed back on these surgeries.

Some operations on intersex infants are no longer routine, but now many doctors and parents are trying to find the best path for an individual child — which operations to do, when to do them — and they have to make those choices without comprehensive data on long-term outcomes. And even if there were perfect data, challenges would still exist. But why is the outcome data so hard to get? And without it, how should these kinds of life-long health care decisions be made? This scrutiny, at its heart, lays bare some fundamental questions of autonomy, medical freedom, and self-determination. Liam McBain has the story.

Liam McBain: When Catherine Graffam was born, she had a birth variation that placed her urethral opening along the underside of her penis, rather than at the tip. Her parents decided it should be surgically moved up to the more typical location, in what was supposed to be a simple, routine operation. But as she grew up, it didn’t turn out that way.

Catherine Graffam: I ended up with a lot of scarring and I ended up with loss of sensation, weird pain that is fairly unexplained. And I would say the emotional damage was pretty intense because I grew up thinking I was a freak and I felt like a freak. I felt awful about myself and it sort of was the beginning of, currently, a lifelong depression, dealing with mental illness caused from the emotional repercussions of going through this, and especially because my parents never talked to me about it so I never had any emotional support and I felt like I couldn’t bring it up.

Liam McBain: And she’s not alone in her experience. Many people who had these “corrective” surgeries as babies have grown up unhappy with the results. Some have sensation issues, scarring, pain. Some have infertility, or hormone imbalances. Some, like Graffam, are trans and don’t identify with the binary gender that surgery would align them with. While some intersex variations require emergency surgery to solve a medical issue like not being able to pass urine, many of these surgeries are not about function.

Because of the complications, as well as the rising concerns about consent and bodily autonomy, intersex activists have spent over 20 years campaigning against unnecessary surgeries. They want doctors and parents to hold off until the child is old enough to weigh the risks and benefits and make a decision for themself.

Here’s Elizabeth Reis, a professor of gender studies and bioethics at the City University of New York’s Macaulay Honors College and the author of “Bodies in Doubt: An American History of Intersex.”

Elizabeth Reis: People ought to have say over their own body’s look and function, particularly when it comes to genitals and reproduction because that is such a, for whatever reason, such a core part of our identities.

Liam McBain: Activists are trying to pass bills entirely banning non-necessary infant surgeries in states like California and New York. Many professional organizations like The American Academy of Family Physicians and The American Medical Association’s board of trustees have made statements against unnecessary early surgeries. Human rights organizations like the United Nations, Amnesty International, and the American Civil Liberties Union have put out statements against them, too. But on the ground, things are still muddy.

Doctors and parents now have to make tough decisions that will affect a child’s entire life. They’d love to be able to point to some hard data — something that says 40 percent of children that get the surgery regret it, and only 10 percent that don’t get it, wish they had. But for a lot of reasons, that data is hard to come by.

Before we get too deep into this, a quick word on language. There’s still intense discussion about what terms are most appropriate to describe this community. Many clinics use DSD, which can either stand for disorders of sex development or differences in sex development. The medical community adopted DSD terminology at a 2005 conference, where nearly 50 experts gathered in Chicago. They chose DSD based on an understanding that the term intersex is potentially pejorative and confusing. But the studies and surveys show the majority of people in this community still prefer the term intersex. The people in this story use both, but I’ll largely stick to intersex. Ok, back to the doctors trying to figure out how best to care for their patients.

Yee-Ming Chan: It’s really just a manifestation of the challenge of the clinical scenario itself that with that degree of uncertainty, the possibility of some of these procedures causing harm or reducing harm, and possibly the same procedure having different consequences for different people, makes it just an inherently very challenging situation.

Liam McBain: That’s Yee-Ming Chan, a pediatric endocrinologist and associate physician at Boston Children’s Hospital. He works in what was formerly their DSD clinic, which is now the Behavioral Health, Endocrinology, and Urology program.

Yee-Ming Chan: We have many parents who come into our program specifically seeking surgery and are taken aback a little bit when we try to slow the process down and really get them to think through all these various scenarios that they may or may not have thought through before. For example, we have seen a few cases where we are the third or fourth opinion about the surgery because other centers have either refused to do the procedure or to at least ask for the family to seek input from other providers.

Liam McBain: Generally, parents want their children to grow up comfortable in their bodies and their identities. But that’s not something Chan’s team can guarantee — he said he’s seen pretty much every outcome possible.

Yee-Ming Chan: I certainly have seen examples of, at least seen or heard of or met people outside of the clinical context who have experienced pretty much all of those potential outcomes, surgery, no surgery, having either favorable or unfavorable outcome and the reasons vary widely.

Liam McBain: Here’s an example: Congenital adrenal hyperplasia, or CAH, is a genetic and hormonal variation that can cause genital ambiguity. Some cases require surgery to permit urinary function, but some surgeries on people with CAH are not about function, like making the clitoris a more typical size.

Anne-Marie Amies Oelschlager: Many of the patients I care for, for example, with congenital adrenal hyperplasia did have surgery in infancy typically to separate the urethra from the vagina or to open the vagina enough to allow the urine to not get trapped in the vagina, and most of them are actually quite happy with the fact that they had surgery when they were little. And a few are not, but most are happy with it.

Liam McBain: That’s Anne-Marie Amies Oelschlager, a gynecologist and member of the multidisciplinary team that works with intersex patients at Seattle Children’s Hospital. There have been a few studies backing Amies Oelschlager’s clinical experience — one showed that among people assigned female at birth with CAH, 79 percent were satisfied with early surgery, though the study also noted that only half reported comfortable sexual intercourse, and there were other, rarer, complications.

One problem is that it’s tough to measure “outcome” or “success” when these surgeries can involve so many aspects of sexual health, reproductive health, urinary health, identity, and more. Especially when the same variation can have differing levels of severity and treatment options. These considerations affect research across variations, but the data collection problem gets even more complicated.

One major barrier is that doctors, researchers, and the intersex community aren’t in perfect agreement about what is considered an intersex variation or not. Take Catherine Graffam’s case.

Catherine Graffam: I was born with hypospadias, which is a genital intersex trait. So I was born with that, a pretty moderate to severe case.

Liam McBain: In short, hypospadias is a variation where someone born with a penis does not have a urethra at the tip — it can end up on the underside of the penis, or in more severe cases, where the penis meets the scrotum. It’s fairly common — about 1 in every 200 live designated male births. It’s on some DSD lists but not others. Amies Oelschlager says while most urologists wouldn’t consider mild cases to be a DSD variation, severe cases often point to underlying genetic causes. But there’s a range, and different doctors might look at the same case and reach a different conclusion.

Anne-Marie Amies Oelschlager: There’s differences of opinion about that in the medical community, for sure.

Catherine Graffam: I still struggled with it at the beginning because I was like, well is it actually intersex or is it just like…I don’t want to be faking this identity and other stuff. But the more I read about it, it’s on the DSD list, which is generally the list that is interchangeable with intersex.

Liam McBain: She’s found a place within the intersex community.

Catherine Graffam: All of the experiences that I’ve gone through are so similar to what so many intersex people have gone through. I was like, ok yes, this is definitely part of like the intersex umbrella and I think I’ve never come across an intersex person that would disagree with me.

Anne-Marie Amies Oelschlager: People have very strong opinions about whether they feel they have an intersex condition or not. So, you know, I have patients who embrace the term and others who totally reject it even though their condition falls under the umbrella. So, it’s tricky. There’s sort of the medical side of it that has a giant umbrella of these conditions, and then there’s the individual and the families affected, who may or may not desire to be a part of that umbrella. From my perspective, I try to think about it in a very broad term.

Liam McBain: There are other variations that are considered to be an intersex variation by some, but not by all. Klinefelter’s Syndrome or XXY Syndrome, has historically not been classified as intersex and few people with the variation consider themselves within the umbrella. It was included in the Chicago consensus DSD list in 2006. However, in a 2007 classification of pediatric endocrine diagnoses, two of the co-sponsors of the Chicago consensus did not include Klinefelter’s as a DSD, classifying it as a “chromosomal abnormality” instead.

So if a researcher wanted to complete a comprehensive study on intersex outcomes, they’d have to gather a decent sample size from a small population while dealing with a debate about who even belongs in that population, with different variations, and changing procedures. And they’d be limited to observational studies since randomized controlled trials — the gold standard of research — are not an option.

Anne-Marie Amies Oelschlager: Well I think the hardest part of doing research on any type of surgical intervention is that you immediately have trouble being able to do a placebo surgery. So immediately we have trouble being able to compare outcomes — and the ethics of randomizing a patient to surgery or not having surgery is, that’s just extraordinarily hard.

Liam McBain: And because surgery has been the norm since the ‘60s, it’s tough to find a control group that has not experienced the operations. The little data we do have on non-intervention comes from a few, specific intersex variations.

Anne-Marie Amies Oelschlager: We have some conditions where we have a better idea of what the natural history of that condition would be, meaning no intervention happened at all and the patients never had surgery. Now, these typically tend to be conditions that present in adolescence because there’s not ambiguous genitalia. For example, one condition would be complete androgen insensitivity syndrome.

Liam McBain: Complete androgen insensitivity syndrome, or CAIS, is a genetic variation that causes a person with XY chromosomes to not respond to androgens. The androgens their undescended testes produce get converted into estrogen by their bodies, meaning they develop a vagina, and later on, breasts. A vast majority live their lives as women.

Anne-Marie Amies Oelschlager: What was historically done, was as soon as this was diagnosed, the testes were removed due to risk of cancer. Now we know that there is a very low risk of cancer, at least in adolescence, and so most of our patients have chosen to retain their testes and then when they’re older, we kind of go through a risk-benefit discussion about retaining versus removing them.

Liam McBain: According to a 2000 study, 80 percent of respondents with CAIS agreed the most appropriate time for surgical intervention is adolescence or adulthood. All respondents had surgery to remove their testes in their teens or 20s (with one exception, who had it at two years old). However, like a lot of studies on intersex people, the number of respondents was very small and only 10 out of the 14 answered the question about timing. But the outcomes of no surgery at all are pretty unknown. Even though gonad removal surgeries tend to happen later for people with CAIS, there’s not a lot of information on those who have kept their testes.

Anne-Marie Amies Oelschlager: What we don’t know — and this is actually one of the more straightforward conditions — we don’t know what the long-term outcome is of retaining testes in the abdomen, in these situations. So even with this type of condition where no surgical intervention happened early, we still don’t have great data about if the risk increases, say, in the late 20s, the 30s, the 40s, and we don’t also know if the estrogen that’s being produced by conversion of testosterone is adequate to provide enough for bone density to be adequate. This is a very hard thing because we have to study people for a long time to be able to get accurate data about tumor risk. But we don’t know because historically, the testes were just removed due to an assumed risk.

Liam McBain: This points to another huge problem with collecting useable data. It’s long-term information that doctors and parents want, especially when it comes to matters of sexual and reproductive function.

Anne-Marie Amies Oelschlager: Following those patients through puberty, there’s much less data, and then following the same patients into adulthood there’s even less data. So when we’re talking about surgery that affects the vagina, penis, cliterophallus, the function of urinating is evident soon, however the function of having a period, using tampons, that may be evident a little bit sooner after somebody has their period, but then sexual function may not be evident until much, much later. Often the data is not evident for sexual function for potentially 25 years after it’s performed. So there’s a severe limitation in following people that long term. And of course, during that time period, things change. Patients may have different medication options for managing a medical condition that may or may not change the outcomes of the operation. Patients may or may not be following along with their medication or continuing to take it, so it’s really, really challenging. We’re trying really hard.

Elizabeth Reis: We’re not going to get the data that they want.

Liam McBain: That’s bioethicist Elizabeth Reis, again.

Elizabeth Reis: We don’t have that kind of study, we’re never going to have that kind of study. And especially if there’s no data, then why not wait until they’re old enough to understand all the implications?

Liam McBain: For some intersex activists, this whole debate about data is beside the point. They say that people are being harmed, and there’s not time to wait for better data, especially when some of the data we do have shows significant complications are not rare. Here’s Kimberly Zieselman, from InterACT, an advocacy organization that aims to protect intersex youth.

Kimberly Zieselman: I think the scientific approach is really, really tough to do and I don’t think we’re ever going to get that data. We can get some qualitative data where people are self-reporting and doing surveys on intersex people. I mean a lot of that hasn’t even been done. But I think getting, you know, real data on outcomes scientifically is going to be very hard because it requires a long-term follow-up. So I think we can’t wait around for that kind of data either. It’s just not worth it.

Liam McBain: As a bioethicist, Reis feels that doctors shouldn’t offer these procedures to parents anymore. She says bioethical principles, but especially autonomy and justice, should guide the conversation.

Elizabeth Reis: You know, when you’re weighing these things, you have to think of a sense of proportionality and is that worth not having sexual sensation or not having reproductive capacity or having scar tissue or, or just having a feeling that you endured something in your childhood and you don’t really know what it is. And so I feel like if doctors really want to do no harm, they have to give the parents that information and maybe just say — well, actually, I mean, I really think that the doctors should just say, sorry, we don’t do this anymore.

Liam McBain: Amies Oelschlager says there are some medical reasons for early surgeries – some surgeries are easier in younger patients and there’s a lack of conscious memory. And she said that not a lot of her patients are vocal about surgery.

Anne-Marie Amies Oelschlager: I would say it’s tricky because the discussion around banning surgery doesn’t reflect the opinion of the whole community of individuals affected with these conditions. When you think about people who are willing to go to a legislative body, request a bill to be written, are willing to testify in front of a state assembly, immediately the person who’s got the strength and capacity to do that, and the desire to be public about it, is a unique individual. And in my experience caring for hundreds of patients with conditions that affect their genetics or their hormones or their genitalia, this reflects less than 1 percent of my patients. So when people are requesting a ban of surgery, it may have been the right thing for certain people, but we don’t know actually if it was the right thing for everybody.

Yee-Ming Chan: We may never know what the right answers are. And I think that it’s going to be challenging for any one study to really capture the whole breadth of the experience among individuals with the variety of conditions that can lead to differences in genital appearance.There’s so many conditions and each of these conditions has unique features that makes it hard to generalize from one condition to another.

Liam McBain: Dr. Chan also noted that proposed surgery bans in select states might have unforeseen consequences. For example, families with financial means might be able to go to other states to have surgeries performed, with or without the backing of their local medical team. And what is medically-necessary or not is often up to interpretation.

Chan’s team follows the current model, which came out of the 2005 conference.

Yee-Ming Chan: I think the model is really to try to have the, the entire group, the patient to the extent possible, the family and caregivers, and the medical and surgical team, and the behavioral health team to all participate in the discussion about the decisions for various medical and surgical interventions.

Liam McBain: The idea is that they’d pull whatever data is available, and make careful, measured choices as a team about that patient’s individual needs.

Yee-Ming Chan: We favor an approach where we want to make sure that at the very least we do our complete due diligence, which is to inform the parents about the potential risks and benefits of the surgeries and to carefully consider all possible scenarios that could arise if their child later identifies as a boy, later identifies as a girl, later identifies as non-binary or fluid, what the implications of undergoing a surgical procedure that could be irreversible, what those implications would be in each of those scenarios if the procedure is done, if the procedure is not done, and all those permutations. So it can be a quite lengthy discussion to cover all of these possibilities.

Liam McBain: Zieselman says that kind of interdisciplinary care needs to continue throughout an intersex person’s life, that the conversation can’t stop at infant surgeries.

Kimberly Zieselman: There’s a huge need for competent, quality care for intersex adults. And right now there isn’t any. Once we grow up and we transition out of pediatric care, there’s very little, I mean, almost completely non-existent care.

Liam McBain: There are some current ongoing studies like DSD-Life, a European study that tracks multiple variables with a fairly large group of individuals. And Amies Oelschlager also says providers are working on standardization which will lead to better care and better future research.

Anne-Marie Amies Oelschlager: The Differences of Sex Development Translational Research Network has been trying to standardize physical exams, initial genetic testing, initial hormonal testing, initial evaluations, obtaining the prenatal history, to try to be able to have at least a baseline that can then be evaluated later. Even consensus among providers about how to standardize those exams takes a long time to figure out.

Liam McBain: But while these long-term studies are being conducted, the potential for harm persists. Chan says in the meantime, there are going to be mistakes.

Yee-Ming Chan: Again, even with perfect data, we may never be able to predict things for a single individual. And that, because of that, there will be mistakes. And that’s a hard thing for anyone to accept. I think it’s hard for medical providers to accept because the last thing we want to do is to harm any of our patients. It’s a hard thing for parents to accept because no one wants their child to be the subject of a mistake or to make a mistake with their child. I think we often come back to viewing medical decision-making, parenting, life, you name it, as a process where when you have a decision, you try to collect the information that you need to make that decision. Sometimes the information may be inaccurate. But the best you can do is try to make the best decision you can with the information you have at the time and hope for the best. And that’s, a challenging thing to accept. But I think that’s the reality in some situations.

Lydia Chain: Liam, thank you so much for bringing this story to us, and also for joining us here.

Liam McBain: Oh, thank you. I’m happy to be here.

Lydia Chain: One of the things I found really intriguing in your piece was when Kimberly Zieselman from InterACT, when she was discussing the need for long-term care for intersex patients. How has that care gap manifested itself?

Liam McBain: I actually talked to someone who didn’t find out that they were intersex until much later in life. They had really, really painful periods for a really long time and kept going to gynecologists and other doctors trying to figure out what was wrong and how to fix it. None of the treatments were working, they were put on birth control. And they, you know, were just bleeding and in pain. And it took them quite a while to find an endocrinologist who said “OK, I see that you’re having these problems and that none of these treatments are working. Let’s just do some really basic tests to figure out, you know, your hormone levels and making sure those are all OK.” And so, the most basic test found that they had really high estrogen levels, really high testosterone levels, and almost no progesterone which is really unusual. So they did an ultrasound and found that there was an undescended testicle in their abdomen and found out that they were intersex. What this story shows is that if you assume that every patient who walks into your office, if you’re a doctor, fits neatly into this sex binary, then that can miss some really important details that would help them get better care. Presuming everyone fits neatly within this binary leads to worse care.

Lydia Chain: While these infant surgeries are still ongoing, I know that some types of interventions are on the decline, such as cliterophallus surgeries. Can you elaborate on that?

Liam McBain: So, what Dr. Chan was talking about was a reduction in cliterophallus surgeries. So that usually means surgeries that would reduce the size of a clitoris that’s larger than a typical clitoris. There’s been a lot of studies that have shown that, you know, doing these clitoroplasties, as they are called, can result in some really poor outcomes – loss of sensation, increased pain during sex — all of these things just to reduce the appearance of the clitoris. And a lot of doctors have, and a lot of researchers have, come to the conclusion that it doesn’t really make sense to do these surgeries. They are still being done to some extent but studies have shown they are definitely in the decline because, you know, the data just doesn’t necessarily support that this makes sense to do.

Lydia Chain: So these surgeries to reduce the size of the clitoris, it seems they are the sort of surgery under debate in the bills you discuss in your piece. The California bill was recently tabled in committee until the next legislative session, and the New York bill is fairly new — can you tell me a little more about the status and scope of these bills?

Liam McBain: In New York, the bill has been announced by Senator Brad Hoylman, but the actual text of the bill as far as I can tell hasn’t been put in yet, hasn’t been written yet. In the most recent version of the California bill, under its provisions, it names certain surgeries and clitoroplasty is definitely one of them.

Lydia Chain: Liam, was there any other kind of overarching theme that struck you as you were reporting out this story?

Liam McBain: Well I think there are a lot of takeaways when it comes to body autonomy and consent to medical practices. Especially as it applies to minors. Medical consent is a really complicated conversation we are having as a society and this definitely factors into it.

Lydia Chain: Liam McBain is a freelance audio producer based in New York. Our theme music is produced by the Undark team and additional music in this episode came from Kevin MacLeod at Incompetech. I’m your host, Lydia Chain. See you next month.