*Names have been changed to protect privacy
Just like many other 15-year-old boys, Josh* is starting to take an interest in girls (but doesn’t like to talk about it with his mom). He likes hunting and fishing, and he’s proud to show off one of his big catches, now on a mount and displayed in his bedroom. He’s a big fan of sports, especially the Detroit Tigers, and watching TV shows about ghost hunting is cool in his book.
“He’s a very good kid,” mom Mandy* says of her teen.
But Josh struggles with something other 15-year-old boys never have to think about. Josh can’t stand up to urinate. It’s because of how he was born, with a congenial disorder that caused his genitalia to not form in the typical way. It’s been difficult to accept, especially now that he’s older and sees other men using urinals.
One story stands out for Mandy, about a particular trip he took with his grandparents to the store. Josh went to use the bathroom, and when he walked out, he was wet. He told his grandma he tried to stand. “I mean, my mom was in tears,” Mandy recalls. “Because how do you explain to this kid that you can’t do what everybody else is doing?'”
He uses a separate bathroom at school for now, and is starting to use a special funnel, so he can stand like the other boys. It’s been a big deal for Josh and for his mom, and just one of the many challenges they’ve faced due to his condition, partial androgen insensitivity syndrome, or AIS.
It means genetically Josh is a boy, but his body is resistant to androgens, or male hormones. As a result, Josh was born with an extremely small penis, called a micropenis, undescended testicles and openings where a vagina would form. His gender at birth was immediately unknown. Mandy remembers how the hospital stressed calling him “baby” until they had a definitive gender.
“I mean, you hear certain things, like Down syndrome,” Mandy says. But AIS? “This I had never heard of. So I was like, in shock.”
Years ago, the term “hermaphrodite” was often used to describe people who were born with the anatomy, to a lesser or greater degree, of both genders. More recently the word “intersex” has been used. Now, the term Disorders of Sex Development, or DSD, is preferred to reflect the range of cases when a person’s sex organs develop differently or sex chromosomes aren’t typical.
AIS, which Josh has, is just one of many DSD. There are numerous types and, when they occur, they’re sometimes never identified. Because of this, rates differ and it’s difficult to point to one definitive statistic. One source predicts DSD, when based on the broad definition, occur as frequently as 1 in 100 live births, a rate higher than that of Down syndrome. More severe instances are more rare.
It may not even be on an expecting parent’s radar, despite these odds. DSD aren’t regularly talked about due to worries of public reaction or embarrassment, experts in the field note. They’re complicated, manifest differently and, even now, parents – as well as the doctors who care for their children – encounter several choices and challenges when a baby is born with DSD.
“When women are pregnant, we always have these perfect images of how our baby is going to look,” says Dr. Cortney Wolfe-Christensen, formerly a psychologist on the DSD team at Children’s Hospital of Michigan in Detroit. She says parents will go through a grieving process when their child is born with ambiguous genitalia. They grieve for the “perfect” future they once envisioned for their child. “We would argue that it is not all changed, but in that moment, for them, it is.”
What are DSD?
Disorders of Sex Development come in a variety of forms. They are defined as “congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical,” according to the Consensus Statement on Management of Intersex Disorders in Pediatrics. With some DSD, the genitalia look typical at birth and the disorder is discovered later in life, like when a girl fails to start menstruating and further examination uncovers she has XY chromosomes and no uterus, explains Dr. Yegappan Lakshmanan, chief of pediatric urology at Children’s Hospital and a member of its DSD team.
There are upwards of 40 types of DSD falling under three classifications, according to the Williams Textbook of Endocrinology. In some cases, the cause of DSD can be pinpointed as genetic. In other situations the cause is a chromosomal combination other than XY and XX, notes the Handbook for Parents on DSD from Accord Alliance, whose mission is to promote integrated care practices for those with DSD. Sometimes, the cause is unknown all together.
Even before a decision on gender is made, Wolfe-Christensen says there are a lot of things considered, including karyotype (what the child’s chromosomes say they are), genetic profile, ultrasound imaging results, physical appearance, hormone levels, chances of fertility – even family preference.
There’s an initial shock for some parents when they find out about their child’s condition or see their physical appearance.
“Especially the moms feel guilty about whether they contributed to this and they don’t understand what’s going on,” Wolfe-Christensen says.
Fifteen years ago, when Josh was born, Mandy had similar thoughts.
“You’re shocked, but you’re numb,” she says. “You start looking up things and it seems like it’s uncommon.”
The incidence of certain types of DSD diagnosis varies from the more common – about 4 in every 1,000 with hypospadias (atypical location of the urethra on the penis), to the more rare – approximately 1 in 20,000 live births for complete AIS, according to the National Institutes of Health and U.S. National Library of Medicine’s MedlinePlus resource.
When researching these disorders, though, it’s challenging to find consistent statistics. As Accord Alliance explains, it’s “because to provide a number for sure, we would have to have a consensus on what counts as different-enough-from-average to count as a DSD.”
Yet it’s common enough that you could know somebody or be in the same venue as somebody born with DSD, the group emphasizes. The surprise – and one many DSD experts would like to change – is that a group of disorders affecting so many would seem like an anomaly to parents.
“I think the answer is pretty clear: People feel uncomfortable talking about it. And I would say from my clinical experience that that is the most challenging aspect of the care of these patients and their families … the feeling that this is not something you can share with others,” says Dr. David Sandberg, pediatric psychologist and clinical researcher at the University of Michigan Department of Pediatrics and C.S. Mott Children’s Hospital in Ann Arbor, who has worked on Mott’s interdisciplinary DSD clinical team. “All the usual people you would turn to … are sometimes left out, because the parent is concerned about how they will react.”
Mandy admits that even though her family was aware of Josh’s condition, everyday tasks could present challenges.
“It would be a holiday. Yeah, my mom or my sisters would change him, but I just wouldn’t lay him down and let everybody see,” she says. “That was, to me, a little bit embarrassing.”
Surgery or no surgery?
Parents whose children are born with these very apparent disorders are faced with a huge decision: to “normalize” the genitalia through surgery, or to leave the anatomy as is – and possibly make a decision with the child when they’re older.
It’s a choice that carries weight and brings questions, no matter which path they take.
Josh, for instance, has had many surgeries in his 15 years of life. Surgeries have included closing up the openings for the vagina, extending the urethra so he can urinate closer to the tip of his penis (though still not quite at the tip), and creating new openings from which to urinate (he’s had a few different openings to date). They also brought his testicles down. Then came more operations, some to correct issues from previous surgeries.
“We’ve had some fall backs because of what the first doctor has done,” Mandy says. Scar tissue caused him issues with urinating, and doctors had to reopen the opening after a serious infection, which put Josh in the hospital for a month. Recently, it was discovered Josh’s first doctor did not laser out hair follicles in the surgical area, so Josh has experienced pain from growing pubic hair in his skin. His current doctor predicted it would take hours to laser out the rest of the follicles.
“I think if I would have known what I know now, he probably wouldn’t have had to go through all of this,” Mandy says, suggesting other parents do their homework and search for quality care.
Wolfe-Christensen says when a child is born with DSD, the situation is considered a “social emergency” – and, most of the time, not a medical one. There are, of course, worries parents naturally have for their baby’s future. Will people know, and will they accept it if they do? Will they be teased?
Wolfe-Christensen says she can’t remember a family who didn’t opt for surgery. And surgery has thus far been the “status quo” in the medical community, according to Sandberg.
“There are parents who are totally freaked out about this, and it’s kind of where the old model of care came from – was that you treated the anxiety of the parents by doing the surgery on the kids,” says Janet Green, interim executive director of Accord Alliance, which is based in New Jersey. She was born with congenital adrenal hyperplasia, in which the adrenal glands produce an “overabundance” of androgens, or male hormones, according to Boston Children’s Hospital. This can result in ambiguous genitalia and is one of the more common DSD.
While there is more information on the outcomes of DSD patients who have had surgery, since that’s been the go-to recommendation in the past, Sandberg says, there still isn’t enough evidence to say one decision is better than the other.
There are groups that are vocal, and very much against performing these surgeries, Lakshmanan notes. Patients who had surgeries and are now older are in some cases unhappy with the results, either cosmetically or when it comes to sexual function, for example, Wolfe-Christensen says.
Now imagine being a parent, unfamiliar with your baby’s condition, and you’re faced with the choice.
“Their first exposure is all of this controversy, which is not based on discussion of evidence, but is based on personal experiences of one person or doctors who sort of say, ‘My mission is if it doesn’t look typical I make it look typical’ – and questioning, ‘I know you can do that, but why do you do that? Does it have to be done?'” Sandberg says.
At the core, a lot still weighs on parents’ emotions and initial reactions, he says. Parents want the best for their child, but what is best?
“There isn’t evidence from outcomes to tell us what the best choice is,” Sandberg says. “What we can have confidence in, I think, is developing a process for shared decision-making that is balanced.”
Work in the medical community
Educating parents of all the possibilities is just one of the factors considered in providing quality care for kids born with DSD moving forward. Today, experts and advocates involved in the DSD community are working toward integrating specialized, interdisciplinary DSD teams and bringing together the major players in the DSD community to do it.
Published in 2006, the Consensus Statement of Management of Intersex Disorders drafted a statement that recommends a multidisciplinary team approach in the care of DSD patients. The ideal team, as outlined in the statement, should include pediatric specialists in endocrinology, urology, gynecology, genetics and psychology/psychiatry, to name a few. It hinges on all the disciplines working closely and communicating with the primary care physician and family.
Today, attitudes are changing – especially when it comes to making informed choices from the get-go. Now, the recommendation is to “pull back from this sort of automatic recommendation to normalize appearance, sort of saying that focus should be on function and not on appearance,” Sandberg says.
As Green points out, it’s difficult in a society that puts a lot of stock in visual appearance. “We really need to be thinking about this patient as outcomes – of when they’re adults,” she says.
For instance, Sandberg reasons, what if a surgery performed during infancy later causes sex to be painful, or there’s a lack of erotic sensation? “If we just focus on infancy (and) childhood, we could end up having regret.”
Providing parents with more information in the face of the surgery vs. no-surgery decision is something Sandberg is working on actively. He has a contract through the Patient Centered Outcomes Research Institute to create what he calls a “decision support tool” to break down all the options for parents in a balanced way.
More research is in the works, too. Children’s Hospital of Michigan is part of a consortium of children’s hospitals across the country doing research on the outcomes of those with DSD who had cosmetic surgeries.
Wolfe-Christensen explains that as part of her job, she informs parents of their options, talking to them about what could happen in the future based on their choice, in what cases a child may need a surgery (if they cannot urinate) and, if that’s not the case, also making sure they know in order to function, their child doesn’t need surgery. “It’s a hard decision for parents to make,” she says, “but we need to make sure that we’re explaining both sides.”
And if there’s uncertainty of what should be done? It’s OK to put the decision on hold. “(We) have to be able to convince parents that not making an immediate decision is a valid decision,” Green says. There’s time in many cases to consult physicians, have discussions and come back to it.
Regardless of the route, parents and their children face difficult, sometimes uncomfortable situations socially and psychologically as time goes on.
“It was hard when he was a baby,” Mandy recalls of Josh, who needed a catheter early on. “You go out shopping at the mall and you use the bathroom. Here’s the changing table right out in the open in public. How do you tell somebody what’s wrong with your kid?”
Early on in his education, only one teacher knew about Josh’s disorder and was allowed to change him. He stayed in diapers longer than typical because of the complications. And all the surgeries, admittedly, were stressful for her.
“It’s just very hard in the beginning,” Mandy acknowledges.
But Wolfe-Christensen says being open and honest with close family – and your child – is another step in normalizing DSD and ending the stigma surrounding these disorders.
For instance, some parents think that doing surgery early on in life will solve these tough-to-tackle conversations, but that’s not true.
“They hope that this means they will never have to discuss it with their child, which is so problematic,” Sandberg explains, adding that there will be some signs of the surgery. Keeping DSD a secret from the family or the child can lead to mental health problems later in life. “We know from lots of research that secrecy is very harmful,” he notes. Kids know when their parents are keeping secrets from them, and when they find out, it can manifest as shame, Sandberg says.
In a world where information obtained through a Google search is at our fingertips, and the patient can access medical records, it wouldn’t be challenging for these children to figure out their disorders later in life.
“When they learn, finally, that information was kept from them, that their doctors knew and nobody told them, why should they ever trust doctors in the future? And many of these patients will need lifelong interactions with doctors,” Sandberg adds.
Dr. Arlene Baratz, a physician from Pittsburgh, Pennsylvania, is very involved with the DSD community, serving as a board member and family and medical advisor for the AIS-DSD Support Group, as well as family and medical advisor for the groups Advocates for Informed Choice and Accord Alliance. She has two daughters with complete androgen insensitivity syndrome, meaning they have XY chromosomes but have a female appearance. Baratz discovered her older daughter Katie’s disorder when she was taken in for a hernia at age 6. It turns out she had testes trying to come through her groin muscle. Her younger daughter was also diagnosed.
With both of her daughters, she talked to them, pointing out different kinds of family structures since they wouldn’t be able to have biological children of their own. They discussed physical differences. “I decided to raise them with an expectation of what their lives would actually be like,” she explains.
Although she didn’t tell them about the testes or their XY chromosomes at first, she was anxious they would find out on their own. When the girls were teens, she found the AIS-DSD Support Group, which also encouraged her to tell the girls. When she did tell them, they were very accepting. “They felt that the actual truth was much better than this feeling that they were freakish.”
Before Mandy found support and answers, Josh’s curiosity was stressful for her. She didn’t have answers to the questions he asked.
Mandy discovered C.S. Mott’s services when Josh was around 8. Now, she takes him to see the DSD team for regular care, and the whole family sits down to speak with Sandberg about any questions or concerns they have moving forward, including his current struggle with wanting to urinate standing upright. She talks about things that make her uncomfortable, and they work to move past it.
“You can’t help your child unless you feel comfortable with it and you have the help first,” Mandy says.
Baratz, who also struggled to find support during the early years of her daughters’ lives, says finding support through AIS-DSD “was just a real turning point in my life, and I’ve continued to be involved in that group.”
Her daughter Katie is now 29, and her younger daughter 28. Katie is married and going into psychiatry. “They all have good and fulfilling lives,” she says.
While it isn’t completely clear to Mandy what is ahead for her son, especially concerning his ability to consummate a relationship or father children, it’s something she knows is going to come up someday. She hopes every day to see society become more accepting of these disorders. There have been stressful days, no doubt, but Mandy sees the silver lining in all of it.
“God gave me this child that has taught me a lot of things. More strength than I knew I had. I’m not going to lie, there have been a lot of tears,” she confides. But through it all, “It has made me a stronger person.”
There are not a lot of answers; no perfect solutions experts can point to now. Yet Baratz reassures parents, “Just know that everything is going to be all right.” Even though there are varying statistics out there, one thing is clear: Nobody is alone in this.
“Having children is fraught with risks,” Sandberg says. But it’s worth remembering “when things do happen, life can be wonderful with the support of friends and family.”
This post was originally published in 2014 and has been updated for 2016.