Children with disorders of sex development: A qualitative study of early parental experience

Design

A secondary data analysis was performed on interview transcripts from a study designed to develop health-related quality of life (HRQoL) measures for young patients with DSD and their families. The primary study was designed to evaluate the relevance, importance and clarity of preliminary quality of life items generated via open-ended interviews with parents, health care providers and advocates [20]. Items forming the provisional parent self-report HRQoL questionnaire were clustered into 10 subscales designed to capture both common and rare DSD-specific issues (healthcare, decision-making, talking to others, role functioning/family activities, gender concerns, social functioning, general emotional functioning, medications, surgery, doctor visits, future concerns, and earliest experiences). Parents completed the questionnaires in written form and then participated in cognitive interviews during which they were asked about their responses to each item using standardized prompts, including: "What did you think of when answering this question?" and "How did you decide on your rating?" [21, 22]. Parents were asked to comment on any aspects of their experience that were not covered by the existing questions at the end of each subscale and at the end of the questionnaire itself. Structured interviews were conducted by clinician-researchers and experienced research staff (MG, ALQ, AS, DES, MB, and LC), trained by ALQ to conduct cognitive interviews. This research team has extensive experience in conducting these types of interviews [23, 24]. Interviewers followed a structured protocol of open-ended questions and were instructed to allow parents to explore their thoughts and experiences without interruption.

Participant responses to cognitive interview questions often involved detailed descriptions of personal experiences related to the diagnosis and management of their child's DSD that went beyond responding to the standardized prompts. Interviews were audio-recorded and transcribed verbatim. Parents' responses to the items and follow-up interviews, together with demographic information and medical chart excerpts collected in the primary study, constituted the dataset for this secondary analysis.

All study procedures were approved by participating medical centers' Institutional Review Boards.

Participants

Participants were parents of children with DSD identified by systematic medical record review at four regional medical centers located in metropolitan areas along the East Coast and Midwestern United States. Stratified, random sampling was employed to create a sample representative of a wide range of DSD diagnoses, phenotypic severity, gender assignment decisions, and age (newborn to age 6 years). Because of the sampling strategy adopted, the breakdown by diagnosis does not reflect the natural incidence of DSD. Genital surgery status was not used as a selection criterion. Participants who could not communicate in English or whose child had a documented, significant developmental delay (e.g., autism) were excluded.

Details regarding the child's medical history, including diagnosis and management, were excerpted from the medical record using standardized forms completed by qualified healthcare staff at participating medical centers.

Data Analysis

All participants shared the experience of parenting a newborn and/or young child with DSD and associated medical management; thus, a phenomenological approach was well-suited to guide the qualitative content analysis [25]. Three investigators (HPC, LW, and MC) who were not involved with the design or evaluation of the primary study's HRQoL questionnaires, independently read the cognitive interview transcripts and highlighted parent dialogue that reflected salient thoughts, beliefs, and experiences related to their child's DSD and management. This process resulted in an initial outline of emergent categories. The same investigators then independently read the transcripts a second time to supplement and restructure the outline to better reflect parents' experiences. These outlines were merged through a process of comparison and data reduction. In contrast to the HRQoL questionnaire development process, in which we sought to capture the full range of experiences including those that were rare, this analysis focused on overarching themes expressed across multiple domains of the interview transcripts.

"Member checking" was used to improve the accuracy, credibility, and validity of the investigators' coding and interpretation of the cognitive interviews [26]: a convenience sample of study participants from one site was provided a draft of the study results for comment. Participants (n = 5) were asked to comment on the accuracy and completeness with which their experiences were represented. These respondents' comments were used to refine the results.

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."

Study Strengths and Limitations

This study presents the experiences of a relatively large sample of mothers and fathers of diagnostically diverse young children with DSD. Parent participants were identified through a systematic review of the children's medical records; only a small proportion of those contacted refused participation. An additional strength of this study was the extent of fathers' participation (35%). Frequently, studies of children with medical conditions rely exclusively on maternal reports [47, 48].

All children had undergone genital surgery. It is possible that this high rate of genital surgery is related to our sampling process which identified participants via chart review at academic medical centers. This sampling approach may be suboptimal for ascertaining cases in which surgery had not been performed. The proportion of children with DSD who have not undergone surgical interventions is unknown. Accordingly, it is difficult to determine the extent to which our findings can generalize to patients and families who have elected not to have surgery performed. Research by Warne and Raza [49] encourage investigators in this area to be sensitive to variability across cultural and socioeconomic contexts.

Interviews were guided by the standardized probes to evaluate the quality of items to be incorporated into HRQoL questionnaires for parents of young children with DSD. Accordingly, although parents were asked to talk about areas of importance to them and their family that were not specifically covered in the HRQoL instrument, there may be topics of importance that did not emerge due to the interview structure. Tempering this concern is that novel questions were added to the HRQoL questionnaires based on ideas parents generated during the interviews, demonstrating that parents explored experiences beyond the confines of the cognitive interview structure. Finally, because interviews were conducted at varying intervals after some of the events being described, the potential exists for distorted recall.