Parenting Children with Differences in Sex Development Across Developmental Stages: A Qualitative Study

1. Introduction

When parents welcome a newborn, they are often asked about the child’s sex and health. For some parents, these questions cannot be readily answered. Differences in sex development (DSD), also referred to as variations in sex characteristics or intersex, may give rise to such uncertainty.

DSD are congenital conditions affecting sex development across the lifespan (Cools et al., 2018). They are estimated to affect approximately 1:4500 individuals (Hughes et al., 2006). These conditions may involve variations in sex chromosomes, sex hormones and/or primary or secondary sex characteristics and may become apparent at different stages of life.

Although parenting any child involves a range of emotional and practical responsibilities, raising a child with DSD may involve additional challenges and concerns (Alderson et al., 2023; Kimball et al., 2025; Lundberg et al., 2017; Roen et al., 2023; Sanders et al., 2008). These may include medical decision-making on the child’s behalf, concerns related to fertility and identity, communication about potentially sensitive or stigmatized issues (Roen et al., 2023), as well as specific challenges related to raising a child with variations in genital appearance. Parents may experience heightened stress and uncertainty, and many express a need for psychological support. Accordingly, a Consensus Statement from 2006 and its 2018 update emphasize the importance of providing comprehensive psychosocial support for families of children with DSD (Cools et al., 2018; Lee et al., 2006). However, in a study exploring parents’ need for psychological support, only approximately half reported receiving adequate support (Bennecke et al., 2015).

Qualitative studies indicate that limited medical information at the time of birth may contribute to frustration, emotional distance, and difficulties fully celebrating the newborn (Scranton & Doherty, 2025). Parents have also reported unmet needs for support and guidance during the early period following diagnosis (Bennecke et al., 2015; Roen et al., 2023). Interventions such as structured information programs and peer support may help reduce stress, anxiety, and uncertainty (Scranton & Doherty, 2025; Wechsung et al., 2025; Wiegmann et al., 2024). Early concerns may also involve questions about how to talk about the condition within the family and broader social settings.

Challenges associated with parenting a child with DSD are not limited to the period immediately following diagnosis. As the child grows, new challenges may emerge related to physical development, identity, communication, and future expectations and life planning. DSD may have lifelong implications, including implications for quality of life, fertility, sexual health, and the need for a successful transition to adult care (Crouch & Creighton, 2014; Nahata et al., 2025).

Medical knowledge regarding DSD has expanded considerably, although the timing and indications for treatment remain debated. A growing body of literature has also addressed children’s rights in this context (e.g. Carpenter, 2024; Delaet et al., 2024; Garland & Slokenberga, 2019; Office of the High Commissioner for Human Rights, 2019), as well as psychosexual well-being and mental health outcomes among individuals with DSD (Anand, 2024; Gunawan et al., 2025; Mangone et al., 2025; Mediå et al., 2023; Rapp et al., 2018; Sorouri Khorashad et al., 2025; Waehre et al., 2022).

Although existing research has addressed medical, psychosocial, and rights-based aspects of DSD, as well as parents’ experiences of diagnosis and early support (Scranton & Doherty, 2025; Bennecke et al., 2015), few studies have explored how parents experience parenting across developmental stages and over time. Although DSD may have long-term implications (Nahata et al., 2025), qualitative research specifically examining parents’ experiences across developmental stages remains limited.

This study aims to explore parents’ experiences of raising a child with differences of sex development over time and across key developmental stages.

2. Materials and Methods

We employed an exploratory qualitative design based on individual semi-structured interviews. The study was informed by phenomenological and hermeneutic perspectives, while reflexive thematic analysis was used as the analytic method (Braun & Clarke, 2022). The phenomenological orientation directed attention to parents’ lived experiences of raising a child with DSD over time and to the meanings they attributed to these experiences (Van Manen, 1990). The hermeneutic orientation informed the interpretative approach to participants’ accounts, acknowledging that understanding is shaped through interpretation and by the researchers’ preunderstandings (Gadamer, 1989). Consistent with this orientation, interview data were understood as co-constructed through the interaction between participant and interviewer, with the researcher taking an active role in knowledge production. Phenomenology and hermeneutics thus informed how participants’ experiences and accounts were approached and interpreted, rather than constituting separate analytic methods (Braun & Clarke, 2022). This study formed part of a broader PhD project in which adolescents and young adults and adults with DSD (Mediå et al., 2022, 2023), as well as healthcare professionals (Mediå et al., 2024), were interviewed individually or in focus groups.

Recruitment

This study was conducted in Norway. The participants were recruited from August 2020 to June 2021, and the study included parents of individuals with conditions that are followed up in two regional multidisciplinary teams (MDTs). Conditions like Turner syndrome and Klinefelter syndrome which are not followed up in these MDTs were not included. We included a range of DSD conditions and all genders to explore similarities and differences across diagnoses among parents of adolescents and young adults (AYAs) with DSD aged 16–26 years. We sought to reach parents of AYAs with a verified diagnosis of DSD by recruiting participants through the two multidisciplinary DSD teams at Oslo University Hospital (OUH) and Haukeland University Hospital (HUH), as well as from the Norwegian Center for Rare Diseases at OUH.

Eleven parents of eight AYAs provided written consent and were subsequently contacted by phone to arrange interview appointments. The sample was smaller than anticipated, and recruitment proved time-consuming for several reasons. The researchers did not approach parents of AYAs directly and therefore relied on clinicians to facilitate recruitment. In addition, participants were recruited during the COVID-19 pandemic.

Diagnostic information was based on the participants’ self-report and included five different conditions: congenital adrenal hyperplasia (CAH), proximal hypospadias and/or complex congenital difference of the genitourinary system, Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), Swyer syndrome, and complete androgen insensitivity syndrome (CAIS). Brief descriptions of the five conditions are provided in Table S1.

Study Sample and Data Collection

The sample consisted of three fathers and eight mothers including two couples and one former couple of AYAs aged 16–26 years. Time since diagnosis ranged from 0 to more than 16 years, with the majority of diagnoses made during the neonatal stage. All participants identified with the ethnic majority population where the study was conducted. Participants represented a heterogeneous group in terms of condition, time of diagnosis, and time since diagnosis. In the analysis, we searched for patterns of meaning across cases. (Braun and Clarke, 2022).

The semi-structured interviews were conducted by the first author, with one interview conducted jointly by the first and last author, all between October 2020 and June 2021. Interview times and locations were arranged in collaboration with participants. Because of COVID-19 restrictions, eight interviews were conducted via videoconferencing and one was conducted by telephone. Two interviews were conducted face-to-face, either in a participant’s home (n = 1) or at OUH (n = 1). Interviews lasted between 50 minutes and 2 hours 28 minutes, with a mean duration of 78 minutes. All the interviews were audio-recorded using a Zoom H2n Handy Recorder. Transcripts were de-identified.

The interview guide was developed by the research team and refined with input from a reference group consisting of three young adults and one adult with lived experience of DSD (Tracy, 2010). Interviews explored topics including communication, information needs, vulnerable developmental phases, treatment experiences, and disclosure. However, the experiences the participants shared guided the direction of the interview. We used prompts and probes to ensure that the topics of interest were covered and to get rich and nuanced perspectives of parenthood. Following each interview, the interviewer wrote a brief reflexive summary to document impressions not readily captured on audio recordings, such as shifts in moods, body language, and facial expressions.

Analysis

Data were analyzed using reflexive thematic analysis as described by Braun and Clarke (Braun & Clarke, 2006, 2022). Reflexive thematic analysis was used as an interpretive and recursive approach, with themes actively developed through the researchers’ engagement with the data. All interviews were transcribed verbatim by LM and a research assistant. The transcripts were read repeatedly by LM, SK, and LF to gain an overall understanding of the material and to note preliminary analytic impressions. LM, SK, and LF each coded a subset of the interviews, while all three read and engaged with the full dataset throughout the analytic process. Coding was conducted iteratively and predominantly inductively, with codes developed and refined through engagement with participants’ accounts. LM, SK, and LF collaboratively explored patterns of shared meaning across the dataset and developed candidate themes around central organizing concepts. The themes were progressively refined through discussion and continued engagement with both the coded material and the dataset as a whole.

Consistent with the recursive nature of reflexive thematic analysis, the analysis involved movement back and forth between transcripts, codes, developing themes, the overall interpretation and presentation. This iterative movement between individual accounts, developing interpretations, and the dataset also reflected the study’s hermeneutic orientation. The analytic process was collaborative and reflexive throughout and involved ongoing discussions within the research team to critically examine and refine the developing themes. The two other members of the research team, KBF and AW, contributed to these interpretative discussions during the analytic process, bringing additional perspectives to the developing analysis. Throughout the analytic process, we returned to the original material to remain attentive to the context and meaning. Selected quotations were translated from Norwegian to English and were, when necessary, lightly edited for clarity and readability without altering their meaning.

Methodological Considerations

Throughout the study, we engaged in ongoing reflection on how factors such as the researchers’ preunderstandings, methodological choices, interaction with participants, clinical experience with parents of children with DSD, and contextual conditions shaped the production and interpretation of the data (Braun & Clarke, 2019).

The interview study was conducted within a multidisciplinary research group with expertise in DSD and rare conditions, clinical psychology, and/or qualitative research, as described more in detail below. The research team consisted of five female researchers with diverse yet complementary backgrounds, who contributed distinct perspectives to the study’s design, analysis, and interpretation. LM is a nurse and counselor specializing in rare disorders with experience in counseling individuals with DSD and their families and in qualitative research; AW is a pediatric specialist with additional experience in psychiatry and clinical research, which contributed to the study’s relevance for clinical practice and patient care. Both LM and AW work in a regional DSD team and therefore brought substantial clinical knowledge and familiarity with the field to the study. SK holds a PhD in psychology and has experience conducting qualitative research on rare conditions. KBF is a clinical psychologist and has extensive experience in qualitative and quantitative research on rare conditions. LF specializes in qualitative methodology with a particular focus on patients’ and caregivers’ perspectives, which supported nuanced interpretation and meaningful representation of participants’ perspectives. These different professional and experiential positions informed the analytic process. In particular, perspectives from researchers without clinical experience in DSD contributed to questioning interpretations grounded in clinical familiarity and to considering participants’ accounts from broader psychological and experiential perspectives. These influences were discussed throughout the analysis as interpretations and themes were developed and refined.

Ethical Considerations

This study was conducted in accordance with the principles of the Declaration of Helsinki. All study procedures were approved by the Regional Committee for Medical Research Ethics in South-Eastern Norway (04/2020; no. 79444), and the data protection aspects were approved by the Data Protection Officer at OUH (no. 7000898). Participants received written information about the study and provided written informed consent prior to the interview. They were informed that participation was voluntary and that they could withdraw from the study at any time. The individuals with DSD whose parents were approached initially received information about the study and provided consent for their parents to be contacted regarding participation. Identifying information was removed from the transcripts, and participants were assigned pseudonyms to protect confidentiality.

3. Results

Three major themes were developed through the analysis, capturing the complexity of being a parent of a child with DSD. The first theme captured parents’ experiences with healthcare professionals (HCPs) from diagnosis through the transition to adulthood. The second theme illustrated how participants navigated the tension between openness and secrecy regarding information about the condition, as secrecy could contribute to shame and restrict knowledge and access to support. The third theme captured the coping strategies that parents used to navigate challenges from the child’s early years through young adulthood.

Parental Experiences with Healthcare Professionals

Early encounters and uncertainty

Several parents described distressing experiences related to the clarification of their child’s sex and diagnosis following childbirth. Ingrid, the mother of a child with CAH, described encounters with physicians who appeared to have little time to speak with them and who did not consistently communicate their findings. “It was incredibly difficult not knowing what sex the baby was. […] And not knowing exactly what the diagnosis was – which also took time to determine.” She further explained that they believed they had a daughter and became confused when the doctor began searching for testicles:

Our firstborn princess doesn’t have testicles, and apparently that was considered good news? […] I just broke down and cried uncontrollably and said I couldn’t handle having visitors. That we weren’t sure what sex the baby was, or whether she was healthy or not – the two most important questions about a child, right? And then there was nothing. […] It took eight days before the diagnosis was confirmed.

Daniel, a father of a child with a complex congenital genitourinary difference, described the birth as traumatic. His child was born at a local hospital with limited experience managing similar cases and no established procedures for supporting fathers as next of kin.

Things could have been handled differently when she [wife] gave birth – there should have been some form of support service, someone to talk to. The mother was lying in bed since the baby had just been born, and I ended up wandering along the hospital corridors all alone for hours. I knew nothing. What was wrong with the baby – they couldn’t even tell me his sex. Right? I was left completely on my own, for at least 5–6 hours, completely alone. […]. When your child is taken away from you immediately after birth because they are so ill – they must not forget the father. That’s not okay. That was the most painful experience of it all.

Navigating Information, Communication, and Support

Despite these early and at times potentially traumatic experiences, several parents described receiving adequate information and follow-up throughout much of the care trajectory, although they also had some negative encounters with HCPs. In particular, parents of children born with a complex congenital difference of the genitourinary system reported that clinical encounters often emphasized the child’s condition and associated challenges throughout treatment. Kirsten described meeting with a social worker shortly following birth:

She pointed out that I needed to understand that I had given birth to a very sick child. And I knew that, of course, but I didn’t want to hear it – perhaps as a way of protecting myself. I don’t think I was able to fully take it in. I needed some time.

Some participants expressed a desire for HCPs to adopt a more positively oriented approach toward the child, by emphasizing possibilities rather than limitations. As a father, Daniel expressed:

He already knows his problems really well. I don’t think they need to emphasize it so strongly. And then he gets so sad afterwards. And I get sad, and we all feel sad listening to those conversations. […] I think they could adopt a somewhat more positive approach – and emphasize that he still has a good future ahead of him. I understand they need to do their job, but perhaps they could frame it in a more hopeful way, so that he could feel a bit more hopeful.

The importance of this type of communication was also highlighted by Sofia, whose daughter was diagnosed with MRKH during adolescence. She described her encounters with HCPs at the time of diagnosis as supportive and reassuring:

At least they said, ‘This will be fine.’ ‘Yes, we know this condition – we know how to manage with it.’ […] ‘Your life will be good, even though you have this.’ […] ‘We can talk about difficult things – and by talking about them, they become less difficult.’ And this is so important when you’re sixteen and receive such a message.

Sofia also appreciated that the HCPs, particularly the gynecologist, explicitly affirmed her daughter’s identity as a woman: “Having that clearly stated was, I think, very important. So that she does not have to worry about how she presents herself.”

Transition from pediatric to adult care

Looking beyond childhood and adolescence, several participants highlighted experiences related to follow-up care after their child reached adulthood. Many described receiving good support and continuity of care throughout childhood and adolescence and particularly valued ongoing relationships with the same physicians over time. However, some parents expressed concerns about the transition to adult care and uncertainty about future follow-up. Susanne described how the transition from pediatric to adult care did not unfold as expected:

My daughter didn’t receive the type of follow-up we had been promised, where she would be assigned a regular doctor who would follow her over time and help ensure that everything felt safe and predictable. […] Yes, someone she could build a personal relationship with. Someone she could get to know over time, and who would get to know her as a person - not just her diagnosis. So she would not have to explain herself every single time. […] She struggled with having to meet new doctors and explain her condition repeatedly […].

Some parents had positive experiences with the transition from pediatric to adult care. Most parents also described gradually stepping back from attending medical appointments after their child turned 18; as it was considered natural that the young person assumed greater independence and responsibility. Marie described her daughter’s transition to adult care as unproblematic: “Yes, it was actually a bit exciting. We had been seeing the same doctor for many years. […] But my impression is that it has worked out just fine.”

However, two parents emphasized that the transition to adult care could have been better facilitated. What had for many years felt familiar and safe, suddenly became unfamiliar as familiar health care providers were no longer involved, and communication appeared more limited than in pediatric care. Anna suggested that issues addressed during pediatric care could have continued to receive attention during early adulthood:

Even if they are 18, I think, they are not really adults yet. There were definitely many reactions from [my daughter] during this period in upper secondary school. Suddenly, she started missing a lot of school, and she had never missed school before. That’s actually how I realized something was wrong.

Disclosure: An Act of Balance

Overall, parents of adolescents and young adults living with DSD expressed generally positive attitudes toward openness. However, when discussing their own experiences of disclosing information about their child’s condition, most described setting clear boundaries regarding what to share, with whom, and under what circumstances. Parents’ accounts reflected several barriers and facilitating conditions that shaped how they approached disclosure.

Hesitations regarding disclosure

The primary concern among parents who initially felt a need to share information involved fear of gossip, misunderstandings, and a loss of control over personal information. The perceived “sensational” nature of a condition affecting sex development and the potential stigma directed towards their child heightened these concerns. Parents who chose to disclose information generally reported positive experiences and did not describe direct experiences of stigma. However, even among parents who were selective about what they shared and with whom, expectations of stigma from others remained present.

Sofia, the mother of a young woman diagnosed during adolescence reflected on the difficulty of finding someone to confide in:

But then I thought it would have to be the doctor or someone like that. Because… I do not want to tell [others] (…) And people really struggle to keep secrets. So I don’t know who I could have spoken to besides a professional, actually.

Decisions regarding disclosure were also shaped by parents’ perceptions of a general lack of knowledge - both within society and among parents themselves. Anna, the mother of a young woman diagnosed during adolescence with CAIS, described how the complexity of the condition made disclosure more difficult: “But it’s also difficult because… we don’t know enough about it either, you know? So how can you explain this… especially when they are young… so that they really understand… it’s not easy.” (Anna)

The child’s right to autonomy and self-determination regarding who should know about their condition and body was emphasized by all participants as an important reason for limiting disclosure or selectively sharing information:

I do think openness is good, others can learn, and you can share experiences. But I’m a bit uncertain about… whether I should make that choice on his behalf? (…) He’s the one who will live with this for the rest of his life, so he should decide how open he wants to be. (Hanna)

Facilitators of disclosure

Although all participants viewed openness as a positive ideal that could potentially make life easier, many described needing several conditions to be in place before feeling comfortable disclosing information. Key facilitators included the presence of role models, the need for understanding from others, and practical needs for accommodation and support.

All participants emphasized the importance of role models, individuals willing to speak publicly about living with stigmatized conditions, as a way of increasing public awareness and reducing stigma, which, in turn, could make personal disclosure easier:

It’s great when someone [a public figure] dares to talk about it, so that it becomes completely normal. In every family there’s always something - different health problems, physical or mental… without it being anyone’s fault or something to be ashamed of. I think knowledge helps remove the shame. (Sofia)

Few parents felt ready to take on the role as public advocates themselves, although one family chose to share their story in a newspaper article and described the overwhelmingly positive response:

We received a great deal of feedback from others who had children with similar conditions… saying how great it was that we contributed to this. At least in our local community, they said they had never heard of it before. And… yes, it was entirely positive. (Leila)

Although positive attitudes toward disclosure were widespread, many found disclosure difficult in practice. Sharing information about the medical dimensions of their child’s condition (e.g., medication, injections, fertility issues) was stressful, but still easier than discussing variations in genital characteristics or issues related to gender. Many expressed a need for guidance regarding how to talk about such sensitive topics - both with others and with their child. Consequently, when situations required understanding and practical accommodations (e.g., starting school), parents disclosed relevant information:

It worked really well. Before school started, we had a meeting where we explained the situation. I think that’s what matters - that we provide enough information for people to understand (…). I felt the school approached it as ‘We’ll handle this together.’ And I needed that - it helped me feel safe, which, in turn, helped me support [my child] in feeling safe as well. (Leila)

An important prerequisite for disclosure was the ability to adjust the amount and type of information to different contexts. In some situations, being able to choose only certain parts of the story made sharing easier. Ingrid, the mother of a young girl with CAH, explained how they tried to guide their daughter’s disclosure process, recognizing that such information could follow her into adulthood:

It [only telling certain parts] protected her a bit… this is the same peer group she would continue with through middle school and high school (…). It’s nice that not everyone is sitting there searching online for images related to the condition, and (…) she was very keen on using the term CAH, but we encouraged her to use the term ‘adrenal insufficiency’ instead.

Coping Strategies and Parenting

Strategies for supporting the child

Faced with hospitalizations, complex medical decisions, and the emotional challenges related to their child looking or feeling different, parents described relying on a range of long-term coping strategies to manage daily life. For some, this involved creating predictability through consistent routines around medical care and hospital visits. Hanna described intentionally pairing these routines with positive experiences to help her child cope:

You just have to make the best of it. When we traveled for hospital visits, we also went to the theater. Those are the things he [our son] remembers most… I don’t think he has many negative memories, because we tried to focus on other experiences.

Other parents emphasized more emotionally oriented strategies including setting boundaries, remaining emotionally present, and offering consistent support, while not allowing the diagnosis to dominate everyday life: “She has a condition, but she’s not her diagnosis… Your child is who they are, not their disease. I think she [my daughter] has internalized this herself as well, that she isn’t her illness; she just has one” (Susanne). Parents also emphasized that the diagnosis did not necessarily have to limit their child’s life, and framed such experiences as part of the broader range of challenges many people encounter:

Meeting someone who has a diagnosis or some kind of challenge is not so unusual. Fertility challenges, especially, are quite common. If anything, they’re more common than not. So… it really should not come as a shock, honestly. Not for anyone.

Several parents emphasized the importance of supporting their child’s personal strengths, such as humor, determination, sociability, or intelligence, to promote a sense of self beyond the diagnosis. For Daniel, this involved creating opportunities for his son to experience competence, participation, and normalcy: “What matters most to us is that he can live as normally as possible - like other children. (…) We have actually managed that so far.” Others advocated for a view of normalcy not as fitting in, but as expanding or redefining what it means to be normal. Thomas emphasized encouraging his daughter to embrace diversity and complexity as part of her everyday life: “She has seen so many different lives - so many different ways of living… that helps you understand that the world is big and diverse.” Similarly, Hanna described consciously modeling body acceptance and normalizing difference from an early age: “We don’t run around naked at home, but… helping children feel secure in their own bodies and showing that bodies vary – that is something we’ve been mindful of since the children were young.”

Strain and shared responsibility

For most parents, raising a child with a DSD extended far beyond medical management and practical strategies for supporting their child. Particularly during the early period following diagnosis, parents described entering a form of “survival mode”, doing what needed to be done while feeling emotionally drained and overwhelmed. A few parents described ongoing feelings of guilt, shame, and self-questioning, particularly related to questioning why their child had been affected: “You’ll always ask yourself, right? Why did this happen?” (Hanna). For some parents, feelings of shame related to the child’s body or medical differences remained difficult to manage, particularly when witnessing their child struggle socially or emotionally: “You never really get used to having a son whose body is different - it’s painful sometimes. I have to be allowed to say that” (Daniel)

The diagnosis also affected family dynamics. Several mothers described unequal caregiving responsibilities, strain within co-parenting relationships, and different responses to ongoing caregiving demands: “We were already separated when he was [a toddler]. And of course, it [the diagnosis] affected the relationship... everything, because we reacted very differently” (Ingrid). Parents also reflected on how the diagnosis affected siblings and family relationships more broadly, describing both siblings’ ability to adapt and feelings of guilt related to unequal attention within the family: “That’s something I’ve reflected on afterwards - that he [the brother] may have been a bit overlooked. And she [child with diagnosis] says it herself too, that she knows it, that she has required much more attention” (Kirsten).

As their children entered adolescence and approached adulthood, parents described the increasing emotional complexity of their parenting role. They emphasized gradually transferring responsibility for managing the condition, while renegotiating their own involvement, particularly in private aspects of care. Kirsten shared her discomfort with remaining involved in intimate aspects of her son’s care, including conversations about sexual function during medical appointments:

I actually find it difficult, because I have to sit and listen to those kind of things. I don’t really feel like it’s something I should be part of… it doesn’t feel normal to me, to be present when he has to answer those kinds of questions.

Many parents expressed grief and concern regarding what their children might miss out on in adulthood due to their diagnosis, including intimacy, romantic relationships, and the possibility of having a family:

I worry about and often think about how much he’s missing out on. You know, things like having intimate relationships. I think a lot about that, because it’s something so important for all people. I wonder how he will get to experience that? That’s also part of it, the grief over that. (Kirsten)

Social support, or the absence of it, appeared to play a significant role in how parents felt they coped. Some parents described feeling disappointed by limited support from their social networks, expecting more help than they received. As one mother reflected: “I was walking around thinking that once we got home, people would come and help us, but that didn’t happen… There’s been very little help. Very little support” (Ingrid). Looking back, she also acknowledged the emotional toll it had taken: “Life hasn’t exactly been great, I have to admit that.”

In contrast, other parents described finding strength through shared responsibility and supportive relationships, including support from family members, health care professionals, school personnel or others in similar situations. One father reflected on the emotional process of coming to terms with his daughter’s diagnosis and highlighted the stabilizing role of his wife’s support: “For me, it felt like free fall when I found out. And then, in a way, it turned into cruising” (Thomas).

4. Discussion

In this study, parenting a child with DSD emerged as a long-term process of emotional and relational work unfolding across healthcare settings and everyday life. Parents described navigating uncertainty beginning at the time of diagnosis, concerns related to stigma, uncertainty about the child’s future, and ongoing efforts to create a sense of normalcy for both the child and the family. Taken together, the findings suggest that parents’ experiences of uncertainty, disclosure, coping, and transition are closely interconnected processes that evolve over time, and are shaped by both healthcare encounters and everyday family life.

Coping with Uncertainty and Stress Across Time and Contexts

A central pattern across the findings was that parents’ early experiences of uncertainty and stress persisted over time and became embedded within both healthcare encounters and broader relational contexts. Past research demonstrating that illness-related uncertainty predicts anxiety and depressive symptoms across time in parents (Roberts et al., 2020) should be considered by HCPs involved in the follow-up of families affected by DSD.

Parents’ descriptions of uncertainty, helplessness, and emotional overload may be understood through the framework of Pediatric Medical Traumatic Stress (PMTS; Kazak et al., 2006; Price et al., 2016), which proposes that trauma-related stress responses may arise in both children and parents following exposure to severe illness, invasive medical procedures, and overwhelming healthcare experiences. Parents described experiences related to birth, diagnosis, and sex assignment as particularly overwhelming and distressing, describing intense feelings of helplessness, lack of control, separation, and insufficient or misaligned support. Notably, these experiences remained emotionally salient years later. This was reflected in parents’ accounts of being left alone without information after birth or having to wait several days for diagnostic clarification, which appeared to contribute to enduring emotional strain. Consistent with PMTS theory (Price et al., 2016; Pinquart, 2018), parents’ accounts suggest that stress and uncertainty were not limited to a single event but evolved over time, shaped by ongoing treatment demands, repeated medical encounters, challenges related to disclosure, and transitions in care. Several parents also described periods of “survival mode,” characterized by persisting guilt, shame, grief, and strain within close relationships. These reactions resemble trauma-related stress responses reported among parents of children with other severe and chronic pediatric conditions (Feragen et al., 2020; Ljungman et al., 2014; Woolf-King et al., 2017). Taken together, the findings reinforce existing evidence that the chronic and unpredictable nature of pediatric medical conditions may increase parental psychological vulnerability and contribute to persistent stress responses (Pinquart, 2018).

Coping emerged as a central process through which parents managed stress, and referred to the various efforts parents described using to manage stress. In this context, coping encompassed attempts to regulate emotions, address problems, or manage difficult situations, whether adaptive or maladaptive, effective or ineffective (Folkman, 2020; Lazarus, 1993). Healthcare interactions were a critical influence on parents’ coping, functioning as both a source of stress and sources of support within experiences of uncertainty and possible trauma-related stress responses. They described how access to clear and timely information, continuity of care, accessibility, and affirming communication shaped their ability to manage everyday demands. Consistent with social support theories emphasizing the buffering role of emotional, instrumental, and practical support in overwhelming stress (Thoits, 2011), these forms of support were experienced as reducing stress and strengthening parents’ coping efforts. In contrast, experiences of insufficient information, exclusion from decision-making processes, and disruptions in continuity of care appeared to amplify distress, particularly when occurring at critical moments such as diagnosis or birth. For instance, parents highlighted how lack of continuity and difficulties accessing healthcare professionals after the transition to adult services left them feeling unsupported and increased uncertainty. Overall, these accounts suggest that coping was not merely an individual capacity but was relationally and structurally shaped by how healthcare and social systems responded to parents’ needs over time.

Parents’ coping was also shaped by broader social contexts beyond healthcare settings. Partner relationships, sibling dynamics, school environments, and wider social networks played an important role in shaping how families managed ongoing stress. Several parents described unequal caregiving responsibilities, strain in co-parenting relationships, and concerns that siblings received less attention, underscoring how caring for a child with DSD can affect the functioning and emotional well-being of the entire family system.

Taken together, these findings underscore the cumulative nature of distress and highlight the relevance of trauma-informed pediatric care approaches for families affected by DSD, including early identification of parental distress, strengthened social support, and anticipatory guidance (Kassam-Adams et al., 2013; Marsac et al., 2016). At the same time, these experiences may also be understood as relational and situational responses to prolonged caregiving under conditions of uncertainty and sustained stress, rather than solely as trauma-related stress reactions.

Balancing Protection and Empowerment

A second central pattern concerned how parents continuously negotiated the balance between protecting their child and fostering autonomy and empowerment. This tension permeated healthcare encounters, disclosure practices, and everyday parenting decisions. Parents described a strong desire to protect their child from stigma, misinformation, intrusive attention, and emotional distress, while also supporting the child’s right to knowledge, self-understanding, and control over personal information. Disclosure practices further illustrate this tension between protection and empowerment. Although openness was generally endorsed as an important value, most parents engaged in selective disclosure.

Decisions about what to share, with whom, and when were shaped by anticipated stigma, fear of gossip, and concerns about losing control over personal information. Importantly, this balancing work did not occur in a vacuum, but was shaped by anticipated stigma, limited public knowledge about DSD, as well as fears that the child’s experiences could be misunderstood in unsupportive social contexts. Furthermore, parents consistently emphasized the child’s right to autonomy and expressed reluctance to make irreversible disclosure decisions on the child’s behalf. Selective disclosure therefore emerged as an active and ongoing parental practice, involving ongoing ethical and relational reasoning rather than a single, fixed decision. In this context, selective disclosure functioned not as secrecy, but as a protective strategy aimed at preserving the child’s dignity, agency, and future self-determination. Lampalzer and colleagues (2021) demonstrated that limited knowledge about DSD outside specialized centers constitutes a barrier to effective parental counselling, a finding consistent with the present study. Parents described wanting to disclose information but feeling uncertain about how to do so and fearful of possible consequences, which may, in turn, limit their ability to communicate their own needs for counselling and support. Parents’ accounts also reflected ambivalence and uncertainty, suggesting that the balance between protection and empowerment was fragile, context-dependent, and continuously renegotiated rather than definitely achieved.

Constructing Normalcy over Time

A third conceptual pattern across the findings concerned parents’ active efforts to construct and sustain a sense of normalcy for both the child and the family. Normalcy was not described as an objective or fixed state, but as something parents continually negotiated through everyday practices, narratives, and relationships. In this context, normalcy functioned less as an abstract ideal than as a relational and practical accomplishment, shaped through ongoing interactions and caregiving routines. Some parents emphasized supporting their child in living “as normally as possible” in relation to peers, while others explicitly reframed normalcy in terms of diversity and bodily variation. Importantly, parents references to “normal life” reflected both a desire for social inclusion and an awareness of prevailing norms, rather than an uncritical endorsement of normality as sameness. For example, parents described how uncertainty surrounding sex assignment and diagnosis in the neonatal period, including prolonged waiting times and limited communication, marked the beginning of a long-term process of adaptation.

These findings are consistent with qualitative research identifying the redefinition of normalcy as a central coping strategy among parents of children with rare or stigmatized conditions (Scranton & Doherty, 2025). Findings also align with perspectives from patient and activist organizations that advocate for understanding DSD as natural variations of human biology rather than exclusively as pathological conditions (e.g. InterACT, 2026; InterConnect, 2026). Parents’ narratives reflected ongoing tensions between medicalization and variation, as they navigated healthcare systems while resisting narratives that positioned their child primarily in terms of illness or limitation. Parents’ efforts to construct normalcy therefore unfolded within an ongoing tension between medical framings emphasizing risk and deviation, and parental attempts to foreground variation, capability, and everyday belonging.

Parents in this study described a range of strategies through which normalcy was actively constructed and sustained. These strategies included establishing predictable routines, pairing medical demands with positive experiences, emphasizing personal strengths, modeling body acceptance, and integrating the condition into family life without allowing it to dominate child’s identity. Consistent with previous literature, parents articulated an emerging awareness that there are “many ways bodies can be” and that their family’s experience carried its own meaning and legitimacy (Kimball et al., 2025; Scranton & Doherty, 2025). This narrative and relational work appeared to support both parents and children in acknowledging difference without framing it as deficit. Accordingly, normalcy emerged not as a fixed endpoint, but as an ongoing and revisable process that evolved alongside the child’s development and increasing engagement with wider social and healthcare contexts.

Transition as a Gradual Relational Process

Across the findings, the transition from adolescence to adulthood - and consequently from pediatric to adult care - emerged as a particularly sensitive period for parents and families. Transition has been defined as a purposeful, planned process that supports adolescents and young adults with chronic conditions as they move from child- to adult-oriented healthcare systems (Blum et al., 1993; Rosen et al., 2003). While this definition emphasizes structural coordination and planning, the present findings suggest that a successful transition also depends on relational continuity and emotional preparedness.

Parents emphasized the importance of familiarity, predictability, and relational safety during transfer to adult services. Although some described transition as relatively unproblematic, others described losing trusted relationships with health care providers, reduced communication, and heightened uncertainty when expected follow-up structures were not implemented. For example, some parents described how their child had to repeatedly explain their condition to new healthcare professionals and had difficulty accessing follow-up after consultations, which appeared to contribute to a sense of being left on their own. Similar barriers have been identified across pediatric-onset chronic conditions, where relational discontinuity, differences in care culture between pediatric and adult services, and fragmented follow-up systems complicate transition processes (Moore et al., 2024; Steinkamp et al., 2025). These experiences are consistent with findings showing that parents often feel uncertain about their role and level of support during transition to adult care, and underscore that developmentally appropriate parental involvement may be beneficial for both the transition process and outcomes for young people with long-term conditions (Badour et al., 2023; Ellison et al., 2022), including DSD (Bennecke et al., 2024; Wechsung et al., 2025).

Although the administrative aspects of transition are organized within healthcare services, the present findings highlight that much of the preparatory work supporting adolescents’ and young adults’ increasing responsibility for their health and DSD diagnosis occurs within everyday family life. Over time, parents described gradually transferring condition-specific knowledge, encouraging independence, while gradually adjusting their own involvement. This process involved renegotiating parental roles and boundaries, especially in intimate areas of care. This was reflected in parents’ accounts of discomfort with remaining involved in consultations addressing sensitive topics, alongside efforts to step back and support the young person’s autonomy. Comparable challenges have been described in other congenital conditions involving sensitive bodily functions and long-term follow-up, where transition entails gradual transfer of knowledge and increasing self-management alongside structural coordination between services (Plascevic et al., 2024).

The parents’ accounts highlight the emotional complexity of transition, marked by growing confidence in the young person’s increasing independence alongside persistent worry, grief, and uncertainty about the future. Evidence from broader transition research suggests that abrupt or insufficiently supported transfers may be associated with reduced continuity of follow-up and an increased risk of loss to care (Moore et al., 2024). Together, these findings underscore the importance of equipping parents with the knowledge, confidence, and support needed to guide adolescents and young adults through the transition process (Heath et al., 2017; Singh et al., 2016).

Strengths and Limitations

Few studies have specifically examined the experiences of parents of adolescents and young adults with DSD. This study employed a qualitative approach and included a relatively heterogeneous sample. The sample size was considered sufficient considering the focused study aim, the specificity of the sample, and the richness of the interview material, in line with the concept of information power (Malterud et al., 2016). Although the diversity of diagnoses may limit transferability, the exploratory design enabled the identification of both overarching themes and variations within the data. This approach provided rich and nuanced insights into the phenomena as experienced by participants. In addition, in-depth qualitative research can challenge assumptions that individuals who share a medical diagnosis have similar needs and experiences.

At the same time, the temporal distance from initial diagnosis and early healthcare encounters may also represent a strength, as it allows for more reflective accounts of how early experiences are understood and integrated over time. Although the participants’ children had reached adolescence or young adulthood, experiences from childbirth and early childhood were still vividly recalled and often described as highly distressing. These experiences were central to several interviews. This underscores the importance of early psychosocial and trauma-informed interventions, as well as sensitive and skilled communication from healthcare professionals. Parents also expressed ongoing concerns about their adult child’s long-term well-being, highlighting the need for lifelong follow-up and early preparation for transition to adult healthcare services. Because participants were recruited through multidisciplinary teams, the findings may primarily reflect the experiences of parents who had access to coordinated and specialized care and may therefore not fully capture the experiences of families without access to such services. Taken together, these findings point to the importance of developmentally attuned, family-centered, and continuous care across the life course.

5. Conclusions

By foregrounding parents lived experiences, this study contributes to a deeper understanding of the long-term parenting trajectory involved in raising a child with DSD. Taken together, the findings suggest that parenting in this context entails sustained emotional and relational work over time. Parents navigate enduring uncertainty and possible trauma-related stress, balance tensions between protection and empowerment, and actively construct normalcy within medical, social, and family contexts. Healthcare practices that acknowledge uncertainty, support shared decision-making, ensure continuity across developmental stages, and address psychosocial as well as medical needs appear central to reducing distress and supporting families across time and care settings.

By conceptualizing parents’ experiences as ongoing processes rather than responses to isolated challenges, this study offers a more nuanced understanding of parenting in the context of DSD. This perspective highlights the cumulative and relational nature of parenting and provides a foundation for trauma-informed, family-centered, and developmentally sensitive care. Importantly, these principles should be maintained and carefully adapted through the transition to adult healthcare services.