According to the Intersex Society of North America, the number of times a child is "born so noticeably atypical in terms of genitalia that a specialist in sex differentiation is called in, comes out to about 1 in 1,500 to 1 in 2,000 births."
However, the society also notes that some children can be born with "subtler forms of sex-anatomy variations, some of which won't show up until later in life."
Dr. Courtney Finlayson, M.D., an endocrinologist at the Lurie Children's Hospital's Gender & Sex Development Program's Sex Development Clinic, explained that there are three major steps in human sexual development. "The first is establishment of chromosomal sex, which happens at birth, and is the combination and of X and Y chromosomes," she said. "The second is development of gonadal sex, which is the process by which gonadal tissue becomes either ovarian tissue or testicular tissue. The third is development of the remainder of the internal and external genitalia under the influence of hormones. Disorders of sex development occur when there is an abnormal step in sex development."
The term "intersex" has recently been seen in many circles as leading to an inaccurate stigmatization of patients, since there are many forms of the condition that are not limited to a person born with both male and female genitalia and diagnosing a patient with the condition is not always so cut and dried. For example, there are people who display abnormalities in their sex chromosomes or who over-produce male or female hormones. Thus, Disorders of Sexual Development ( DSD ) is currently viewed as the most acceptable description.
A paper the American Psychological Association released has noted the feelings of "shame, isolation and depression" that a DSD patient can feel. "Parents of children sometimes wonder how much they should tell their children about the condition and at what age," the paper stated. "Parents, physicians and intersex persons may have differing opinions about whether, how and at what age surgery should be performed to change the appearance of ambiguous genitals. At this time, there is very little research evidence to guide such decisions."
Finlayson said that one of the most essential tasks for the Sex Development Clinic is a careful evaluation of each of the three steps in a patient's sexual development. As the endocrinologist, many of those tasks fall upon her. "Blood tests to determine chromosomes and hormone levels are measured at specific times in development to try to determine the cause of the disorder," she explained." Understanding the cause guides our care of the patient. It can help us to predict future hormone production and whether the gonadal tissue ( testicle, ovary or ovotestis ) will function for reproduction. Over time, the children may require further hormone evaluation and potentially hormone supplementation."
Ultimately, she is part of a team of specialists at the clinic endocrinologist, surgeon and psychologistwho will meet with and interpret their findings in to the family in an easy to understand fashion and then work together to come up with an optimum care plan
Dr. Earl Cheng, M.D., is a professor of urology at Northwestern University's Feinberg School of Medicine. He is the co-director of Lurie Children's Hospital's Gender & Sex Development Program and provides direct clinical care for the program's DSD patients.
Cheng's co-founding of the program and partnership with Dr. Rob Garofalo was one that was close to 10 years in the making. "Rob is a very energetic individual," Cheng said with a laugh. "He deals with the population of patients who are gender non-conforming and I deal with the population of DSD patients that are sometimes confused with them. Many years ago, Rob and I came up with the idea of developing a program that could handle both populations. For both political and financial reasons we weren't able to do it then."
Cheng said the medical needs of DSD kids and those who are gender non-conforming are not necessarily the same. However, they require the same specialists for treatment. "These individuals require an endocrinologist to provide an evaluation of the hormones causing the issue at hand," he explained. "They might need surgeons at some point in time andmost importantlythere's a tremendous need for psychological and psychiatric assessment. There's a lack of individuals with the expertise who are willing to provide that sort of care."
A conflux of events helped the Gender & Sex Development Program eventually become a realitythe generous start-up donation they received alongside an increased awareness among the public of the challenges faced by both gender non-conforming and DSD people. "No longer were these two populations of patients just getting shoved under the rug," Cheng said. "Now I think the public is willing to embrace them and see how we can better take care of these individuals. Everything came together at the right time."
Despite the widening acceptance of the term for DSD patients, Cheng wanted to point out that there were reasons why the word "disorders" was not added to the Gender & Sex Development Program "What we came to understand was that how both gender non-conforming and DSD individuals view themselves is extremely important," he said. "For the gender non-conforming group, to even associate the term "disorder" with a program they're involved in would be insulting since there is no element of a disorder where they're concerned."
However, Cheng says that, for DSD patients, there is an opposite feeling. "For them, it more like, 'OK I was born with differences and what is the expertise that I need to better understand it? Is it something I want to address from a medical or surgical standpoint or do I want to stay the way that I am?'"
Cheng said he believes that the world is maturing and reaching a progressive understanding that the divisions between male and female and the decisions of surgeons are not black and white. "I think that the United States is behind some of the other countries," he said. "But the bottom line is that all of the peoplewhether they be gender non-conforming or those individuals who have anatomic variancessort of fall under the same umbrella from the standpoint of needing to understand that there might or might not be overlap."
Both Cheng and Garofalo said there is still so much that is unknown about the work they do. "I think Rob and I were among the first group of physicians in the field who were never afraid to say 'we don't know,'" Cheng said. "I can't tell you the number of times that a family asks me questions that I don't know the answers to. It goes against how I was trained as a surgeon. Twenty years ago, I was trained to have all the answers."
Some of those unanswered questions concern babies born with certain elements of male and female anatomy. Parents will ask if their child is going to feel like more of a boy or a girl later in life. "There are many times that we say 'well most of the data suggests that they may act more like a male, but they could identify as female later,'" Cheng explained. "Sometimes parents want to know if they can make the decision based on how the child's organs are going to work. We'll have a uterus that's a little malformed and they want to know if that uterus could be functional down the line. Then you have ovotestiswhich is an organ with both ovarian and testicular tissueand the question is 'how is that going to best function?' We don't know. We're not only taking into consideration issues of psychological identification of gender but also fertility potential."
Congenital adrenal hyperplasia ( CAH ) is the most common cause of ambiguous genitalia in children. The adrenal gland makes an excess amount of testosterone ( typically thought of as a male hormone ) while a child is in utero. This can lead to girls who are born with male appearing external genitalia, including a gross enlargement of the clitoris. "The vast majority of individuals with CAH that are females will identify as females later on," Cheng said. "Although there are incidents of a female declaring that they identify as a male, most of the time girls develop a female gender identity and everyone feels comfortable performing a feminizing genitoplasty. In the past, reduction procedures on the clitoris would be performed that would affect its function, potentially harming sexual satisfaction later in life. We have altered those procedures to allow better concealment of the enlarged clitoris, while at the same time not affecting sensation and function. We're still not perfect but we're trying to move in a direction where we can satisfy the needs of the individual in the short termas far as how they are viewed when someone changes their diaperas well as in the long term from the standpoint of sexual satisfaction."
Cheng said that as early as 20 or 30 years ago, surgeons approached the DSD population with a form of arrogance. "The feeling of surgeons in the past was 'when it looks mostly male on the outside, we'll make it male, when it looks mostly female, we'll make it female and if we're not quite sure then we'll just assign it, becauseas long as we nurture that genderthe child will be fine.' When a child was born with ambiguous genitalia, the surgeons with the loudest voices would make a decision and tell the family 'this is what we're going to do,' and then surgically they'd make the outer and internal genitalia be consistent with that decision. There was research to suggest that was all good. Then we found out that it was completely wrong. We are much more thoughtful today"
By way of demonstrating how flawed such research turned out to be, Cheng cited the John/Joan case. In 1967, doctors at Johns Hopkins Hospital accidentally removed the penis of an anonymous baby boy. A recommendation was made to change the child's gender and raise the child as a female. "They thought the child would do fine," Cheng recalled. "But in reality the individual had tremendous problems growing up and subsequently identified as male. In the medical community, that landmark case has helped prove that the brain has already been imprinted in utero and has a predetermined gender identity. It isn't necessarily concordant with what their external genitalia looks like."
Today, Cheng has open discussions with the family of a DSD newborn as part of an entire team approach that involves an ethicist, an endocrinologist and a mental health professional. "We have very open discussions with the family and tell them what we know and what we don't know," he said. "In the end thoughlegally and ethicallythe decision belongs to the parents. In many conditions, we try to emphasize not doing anything irreversible from a surgical standpoint. In a perfect world, the best thing to do would be to keep an individual in a neutral hormonal and anatomic situation and let them decide later on in life. Unfortunately society is not accepting of that and it places tremendous pressure on the family."
Dr. Diane Chen, Ph.D., is a psychologist who has been with the Gender & Sex Development program since July, 2013. She trained at Lurie for both her internship and post doctoral fellowship in clinical child and pediatric psychology and brings a strong family therapy and early childhood development perspective to the program. Along with Dr. Marco Hidalgo, Ph.D., a clinical psychologist, she works with both the Gender Development and Sex Development Clinics.
Thus far, Chen has seen the parents of newborn DSD children up to kids in their early teens ( although the clinic will accept patients up to the age of 24 ). The multi-disciplinary approach the clinic offers to these patients and their families has already shown some distinct advantages. "When newborns were diagnosed with a DSD, their treatment used to be sort of piecemeal," Chen said. "They had to go to one provider for surgery and another for endocrinology. If they needed some sort of emotional support, they might have gotten a social worker or a psychologist separate from all those other providers. The great thing about this clinic is that they see all the providers together."
The goal of the clinic is to provide one-stop services for families. "They can meet with an endocrinologist, urologist, pediatric surgeon and psychologist all together," Chen said. "In a lot of cases we will go in as team to see a lot of these families so we're getting the history all together with each specialty's expertise provided to the parents."
To have just been informed that their newborn has a DSD can be an emotionally devastating time for new parents and Chen views her behavioral health services as essential to them. "When they've just had a child, they want to celebrate that, but how do you do so when everyone wants to know if it's a boy or a girl?" Chen said. "There's a lot of stress and pressure on the parents to come up with something to say and it is such a poorly understood medical condition."
Chen asserts that she hears a lot of confusion from the parents of a newborn DSD child. Parents tend to ask the team what they think will be most the likely gender identity the child will have as they develop. "There's no test for that," Chen said. "Having that uncertainty is really difficult for parents. So we're trying to understand the type of support that parents need to make these decisions."
At the same time, the clinic is actively working to reduce the stigma associated with being a DSD child. "We're trying to put it out there more, and make this not such a shameful thing that families must hide," Chen said. "We let them know that they're not alone. We have families in our program that have volunteered to help support other families. Having that peer support available has been an invaluable resource."
Both Chen and Hidalgo provide a familiar face to parents. They make sure that parents feel supported and are digesting all the information being provided to them by the endocrinologist, surgeons and urologists. After those providers step out of the room, Chen and Hidalgo go to work. "Our medical colleagues are fantastic and do a great job of breaking things down for the families to a level that they can understand, but it's still a lot of information," Chen said. "We debrief the parents on all the information they received and reiterate to them that they're probably not going to remember it all. We also need to get an idea of what they have heard. Parents don't always digest the information they're getting because their situation is so high stress. Our job is to gauge where they are and determine when we need to pull one of the doctors back in or schedule another appointment."
She agrees with Cheng that the field has evolved enough to encourage parents not to make rash decisions about surgery, especially something that is more cosmetic versus a functional need. "Dr. Cheng will make recommendations to parents based on function," she said. "What needs to be done so, for example, the child can urinate and what can and should be postponed."
"There are groups that will say no surgery should be done and there are still groups that maintain aggressive surgery should be done," Cheng explained. "The bottom line is we don't have enough psychological studies to tell us which approach is right."
Should a parent decide that they want their child to have surgery, Cheng says that procedures during infancy are technically easier than performing surgery as an adult. "The tissues tend to be more malleable," he said. "They are easier to work with and babies heal very quickly. From a psychosocial standpoint, if you do the procedure before they have collected memories, then they aren't going to recall the discomfort and the trauma of the surgery itself."
In the case of older and adolescent DSD children, Chen sees a plethora of sometimes terrified questions and concerns. "They want to know 'what does it mean when my private parts look like a girl's and I was raised as a girl but genetically I'm XY? Does that mean I'm not a girl? Does that mean I'm really a boy?' Part of our role is to talk them through that."
That process begins with Chen affirming the child's feelings. "I say, 'You know what? You're a girl. Your body may be a little different, but you're a girl.' It's their gender identity, it's their expression, it's how they were reared. A lot of the discussion revolves around how having a DSD impacts their lives, who they disclose it to and what is the purpose of that disclosure."
In some cases, Chen says it isn't necessary for them to disclose their medical status butas with most pediatric conditions that require daily medication,once kids develop into adolescence, the medications serve as a reminder that they are different from their peers. "Part of our role is to work with the kids and their families with adherence to medication," Chen said. "We need to determine if they're accidentally forgetting to take them or choosing not to. That's an issue we have to explore. We need to find out what is playing into that and try to discern whether the child understands the function and importance of the medication."
Most of the teenagers Chen has seen have been extremely well-adjusted. "That's a testament to their families and the care that they have received," she said. "I think where the psychologist's role gets more amplified is with a DSD child who was reared in a particular gender but who questions their own identity."
The Sex Development Clinic may not be able to completely address all of a child and parent's questions for the moment but that is changing. The team has joined in a multi-institutional partnership with Dr. Amy Wisniewski, Ph.D., who works with research and education at the SUCCEED Clinic at the University of Oklahoma. "She has a study encompassing ten institutions across the United States," Cheng said. "In which we are taking DSD children and performing a psychological assessment of both parents and child. We're looking at before and after surgical results and following these individuals long term. It's unbelievably important for us to understand the impact of what we're doing well and what we're doing poorly in the operating room."
Cheng said he hopes he will be able to sit down with families and provide them with the answers they need to put them on the right path. "One of my mentors once told me that you never go in to see a family with bad news without telling them what you're going to do to rectify the situation," he said. "It's our goal to provide a supportive environment and say, 'look, we're going to work with you and try to figure all of this out. We'll be there with you every step of the way.'"