Four overarching and clinically salient domains of parental experiences rearing young DSD-affected children emerged from the content analysis: (1) sex announcement and gender assignment, (2) surgical decision-making, (3) sharing information about the child's DSD with others, and (4) interactions with healthcare providers. Parents who participated in the member-checking interviews identified these domains as accurately reflecting the major issues they experienced.
Sex Announcement and Gender Assignment
A common feature of many DSD is atypical or ambiguous external genitalia. External genitalia ambiguity can be associated with a delayed gender announcement at birth (i.e. "It's a boy!" or "It's a girl!"). Although there is a well-recognized distinction between biologic "sex" (male/female) and "gender of rearing" (boy/girl), parents and providers often conflated the two constructs, e.g., "genetically, he was a boy." [27]
Parental perspective. Most parents voiced certainty about knowing their child's sex and gender of rearing immediately or soon after their child's birth-despite known discordance across karyotype, gonads, or genital anatomy. Parents used (1) their personal intuitions or "gut feelings," (2) the visible appearance of the child's external genitalia or imaging reports of the internal sex organs, and/or (3) genetic testing results to justify their conviction.
A number of parents expressed confidence about knowing their child's sex and gender prior to medical testing. One mother explained that she did not need testing performed on her child to know her child was a girl: "We never even doubted it." Another parent described feeling that they "didn't really have to assign" a gender, though doctors performed a laparoscopy and, in the parent's words, determined that the child "had more boy parts than girl parts" and thus, was a boy. Others cited karyotype findings as definitively determining both their child's sex and gender, erroneously assuming that sex chromosomes are the ultimate arbiters: "We had genetic testing done. So it wasn't like we had to choose and we had to worry about whether we were doing the right thing or not."
Medical chart excerpts. In contrast to parents' nearly immediate certainty about whether their children were males or females/boys or girls, a review of children's medical records revealed healthcare provider delays in gender assignment (n = 7), gender reassignment after initial birth announcement or assignment (n = 3), and cases in which karyotype did not match assigned sex or gender of rearing [n = 6, including 3 cases of sex chromosome mosaicism (e.g., 45, XO/46, XY; Table 2)].
Surgical Decision-Making
The necessity of surgery. All children (n = 28) in this study had at least one genital surgery prior to parental participation in this study, though prior surgery was not an inclusion criterion. Reflecting on early decision-making, parents recalled strong wishes to surgically "normalize" their child's sexual anatomy, i.e., external genitalia and internal reproductive structures. Many parents viewed surgery as obvious and necessary, and did not experience it as something that involved a decision-making process. One parent stated: "The minute he was born, here he had this-- it has to be fixed... It was never any question whether he was gonna go through the surgery or not." Parents frequently used the term "fix" to describe how they understood various surgical interventions.
Parents expressed a profound trust in the medical team's recommendations: "We really never had to make a decision... the doctors told us what was gonna need to be done." As one parent explained: "I wanted them to do the best that they can for my son. So umm, anything they asked for or wanted to do, I was ok with it."
Anticipated benefits. Parents expressed a strong belief that surgery would (1) "fix" the appearance and function of their child's external genitalia and reproductive structures, and (2) avert expected negative psychosocial consequences associated with DSD (i.e. non-normative gender identity and/or gender role, teasing from peers, and hardship in future romantic relationships): "We felt [surgery] would be beneficial for health and social reasons like teasing in school." This sentiment was echoed by others: "In our son's case, he would have had to pee sitting down for the rest of his life and that has both social and physical aspects." Parents sought to surgically modify aspects of the DSD that they thought would be barriers to positive daily functioning: "We want him to have as normal a life as possible. So the benefits outweigh the risks." Parents perceived the medical team as reinforcing the idea that surgery would resolve the DSD: "Dr. [Urologist] was called in and, like a ray of sunshine, said 'I can fix this.'"
Post-surgery experiences. Some parents felt all early concerns related to their child's DSD were eliminated by surgery: "We don't even talk about it anymore. It's just not an issue for us anymore, you know. It's been repaired, and that's it." In general, parents did not report thinking about their children's DSD on a day-to-day basis: "It comes and goes in waves with us definitely... he has his surgery and everything and it's 'oh my gosh, it's kinda real again.' After he recovers from the surgery he's just, you know, he's our normal little boy, doing his stuff."
Most parents expressed satisfaction with the surgery and the functioning of their child's genitalia at present; however, they also noted concerns about the future: fearing negative physical, social, or emotional changes associated with puberty and adolescence, one parent stated "I'm more concerned with it as he gets older... what things are gonna look like... things are functioning perfect right now." Another parent noted "The physically hard part is... is done with, the surgeries are all done. I think now is the emotional." For most parents who continued to express concerns about their child's genital appearance or function following surgery, the worries were future-oriented.
Parental concerns that persisted after surgery included (1) gender identity: "I worry that at some point he's going to feel like he's a woman trapped in a man's body, even though his female structures were removed," (2) gender role: "She throws in the 'Mom, will you paint my nails?' and I go fall over and do it right then and there... I dropped all that I was doing and painted her fingernails because she wanted to act like a little girl," (3) peers: "I worry he's going to be in gym class and people are going to notice things... I just always worry that, you know, that that will be frustrating for him to deal with in the future," (4) romantic partners: "The surgery can only fix so much, it's not going to look exactly normal. In the future, a husband or boyfriend may not be ok with it," (5) fertility: "[I worry about] him being able to have children and be able to feel that he is adequate," and (6) sexual orientation: "He's had so many problems. Is there a possibility of, you know, homosexuality?" No parent specifically stated that they regretted consenting to their child's surgery; however, one parent questioned the necessity in hindsight: "Did she even need to have that [surgery] in the first place? Should we have just left it alone?... It seems like with doctors, it's such a, like they just want to fix it and diagnose." Figure 1 schematically summarizes parent reports of experiences during the period of diagnostic evaluation and decision-making regarding genital surgery.
Despite parents' uncertainties and apprehensions about the future, parents in our study expressed confidence in the appropriateness of their child's gender assignment-including those whose children experienced either delayed gender assignment or reassignment. However, parents tended to express greater concerns about their child's gender development in cases in which the internal genital anatomy or sex chromosomes were discordant with the child's gender of rearing. Conversely, parents of children in whom these markers of sex development were concordant, despite an atypical genital phenotype (e.g., proximal hypospadias with bilateral undescended testes in child with 46, XY karyotype), expressed less concern over the child's gender development.
Sharing Information
Although parents' concerns over their child's gender development depended in part on the specific DSD, this distinction did not predict the amount of information parents shared with others about their child's condition. Instead, comfort with disclosure depended on parents' outlook regarding: (1) the likelihood of stigmatization, (2) who they believed had the right to disclose information, (3) personal comfort in talking about anatomical aspects of DSD, and (4) parents' perceived ability to accurately explain DSD to others and/or have their child's condition understood.
Concerns about talking with others. Many parents expressed the view that sharing information about their child's condition would lead to stigmatization: "I don't want people to treat her different." Parents were also concerned about rumors and gossip: "I don't want rumors to start and for it to affect him later on in life-like socially because people don't understand the condition." Most fears were not based on direct experience; however, one parent reported a negative incident with a family member: "Her father came over and said that it wasn't his child because he don't make funny babies."
Several parents noted that, because DSD was potentially stigmatizing, they wanted to preserve their child's right to make decisions about disclosure: "There's a whole stigma associated with this, and it's unfortunate, and I have kept it mostly private for [my son] because I don't know how he wants to handle it when he gets bigger." Other parents, particularly those who opted for sharing more information, felt less need to defer the decision to their child: "I'm not embarrassed about what they have. You know, it's part of life."
Several parents felt their child's condition was extremely difficult to explain, and/or not something most people would understand. Additionally, parents were concerned that their attempts to explain the condition to others would generate more questions than they wanted to answer; one parent noted: "It is kind of exhausting trying to explain." Many parents expressed discomfort in talking to others about the anatomical aspects of their child's DSD: "It's a little bit of a personal area of the body so it's... I don't know. I don't want to run around with a banner saying that my child has an issue with that part of his body."
Consequences of minimal sharing. Most parents chose to limit the amount of information shared, with whom it was shared, and who was allowed to view their child's genitals. The practice of limiting information sharing proved to be difficult and stressful for many. In some cases, parents did not share details of the DSD with anyone, including close family (e.g., child's grandparents). Nevertheless, parents reported feeling pressured to talk about their child's condition with others: "People want to know, 'What's going on?' How he is. 'Why were you at the doctor?' So you kind of have to come up with a way to talk about it," or "I had to tell somebody, 'cause it was bursting inside of me. I'm like, I've gotta get somebody else's input or something." At the same time, parents believed that keeping their children's DSD private was extremely important: "It's hard having a child with something that you can't talk to people about. That you feel like you've got to have this huge secret all the time. That in itself is stressful in that you just can't tell people how you feel... [but] I can't jeopardize it, I can't take that risk. I just can't." Parents also reported avoiding situations in which their child's genitals might be seen: "I would change [my unaffected son] into a bathing suit at a side of a pool and not think twice about it and with [my affected son], I would never do that" or "I was like 'Oh no, you are not changing his diaper. I don't want to talk about it.'"
Many parents decided to give others partial information about their child's DSD and its management in order to strike a balance between their desire to consult and share with others and their fear of negative consequences. One parent noted: "I guess it was a little bit easier to say, 'He had a bladder infection so we went to the doctor,' versus saying, 'Well, when he was born he had this birth defect and...'" More rarely, parents felt comfortable discussing the condition openly: "I don't think that there's really anything private... I've never thought of keeping it from anybody." Many parents reported that as time went on they became more comfortable with their child's condition and that sharing information was less pressing, particularly when their child was more independent (i.e., no longer in diapers and surgical aftercare was complete) or after genital appearance was modified. Figure 2 summarizes parents' experiences with disclosure of their child's DSD.
Interactions with Healthcare Providers
DSD education. Many parents reported that until they received their child's diagnosis, they were unaware such conditions existed: "I didn't understand it. I'd never heard of it before." Parents felt that their unfamiliarity with their child's diagnosis contributed to their stress and feelings of isolation: "[I] had never talked to anybody that had ever experienced it and I kinda felt like... I was the only one ever having to deal with this." Parents often described gaining information from the medical team as helpful in decreasing this source of stress. Several parents mentioned physicians' drawings as a particularly helpful tool that enhanced their understanding.
Despite what parents believed were the providers' best efforts, some expressed frustration with the type or amount of information available to them: "The most stressful thing is just not being presented with clear-cut information." This same parent went on to explain: "[The medical staff] did give us pamphlets and they kind of explained things over and over, but you really want comprehensive information and it's hard." Still other parents noted positive experiences in obtaining information from their child's medical team, but encountered difficulties when seeking information through other sources: "The doctors don't overload you. They give you as much as you can handle, and go from there. The only problem is when you go home and you try and research this, and you get scared."
Negative experiences. Although the majority of parents described their communications with healthcare providers as supportive, a handful reported incidents described as "frustrating" or "exploitive." One parent said: "I felt like [the doctor] was looking just to look... I felt like he was just exploiting her for his own... you know--he wanted to see the surgery." While parents expressed an understanding that a hospital may also have a teaching mission, they did not feel that this justified the large number of providers interacting with them or their child or the repeated examinations of their child's genitalia: "There were so many residents and different people coming in at every time it felt like he was a show-horse and that was frustrating... you're trying to breastfeed for the first time."