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Supporting parents of children born with differences in sex development
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  1. Anya Baig
  1. Royal Free London NHS Foundation Trust, London, UK
  1. Correspondence to Dr Anya Baig, Royal Free London NHS Foundation Trust, London, UK; a.baig1{at}nhs.net

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Scenario

A baby born via an uneventful delivery in the birth centre was unwell after delivery. They were found to have electrolyte abnormalities on blood tests and ambiguous genitalia.

They were admitted to the neonatal unit and a postnatal diagnosis of congenital adrenal hyperplasia (CAH) was made after investigations.

Structured clinical question

How can healthcare professionals deliver a diagnosis of differences in sex development (DSD) to parents of affected children (population), and support parents’ psychological needs around diagnosis (intervention), in a way that promotes positive parental mental health (outcome)?

Search

A search of the Cochrane Library was done using the MeSH term ‘Disorders of Sex Development’; no relevant systematic reviews were found.

PubMed was searched from May to June 2023 using the search terms ‘Disorders of Sex Development (MeSH) AND (experience OR psycho* OR mental OR well-being OR emotion*) AND (parent(s) OR mother(s) OR father(s) OR caregiver(s) OR family OR families) AND diagnosis’.

A total of 845 results were reviewed, along with a hand-search of included papers (giving one additional paper). Studies published before 2000 were excluded, since they frequently contained outdated information about attitudes and management of DSDs. Studies of fewer than eight participants were also excluded due to the small sample size. This left 10 studies suitable for inclusion, which are shown in table 1.

Table 1

Summary of included studies

Commentary

DSDs are a group of conditions in which individuals have atypical sex development due to a variation in chromosomal or anatomical features.1 The nomenclature used to describe DSDs has evolved over time, and preferences of terms may vary between affected individuals and caregivers.2 Furthermore, individuals with similar sex characteristics may differ in how they define their gender identity.

The initial management of patients with DSD has been described as a ‘social and clinical emergency’ due to the importance of prompt medical and psychological support for families.1

Studies have shown that parents of neonates and children with a DSD feel shocked, frightened and disbelieving after diagnosis, and many reach the clinical threshold for a diagnosis of anxiety disorder and post traumatic stress disorder (PTSD).3–8 Slijper et al found that feelings of shame and guilt were commonly reported by parents of children with androgen insensitivity syndrome (AIS), especially mothers.5 Parental distress after diagnosis may affect the wider familial unit, for example, parents of children with Klienfelter’s syndrome relayed how receiving an unexpected diagnosis impacted healthy bonding with their child, as well as their relationship with their partner.9 A meta-analysis of parental stress in caregivers of children with other chronic conditions suggested that interventions aiming to alleviate parental stress may in turn improve children’s health-related outcomes.10

The qualitative studies chosen frequently had small sample sizes between 10 and 40 parents, although the findings from them were congruent with one another. A limitation of the studies is that many interviews were conducted years after the initial diagnosis was made, introducing possible recall bias. Parents of children that were diagnosed more recently often declined to be interviewed due to the rawness of their emotions. Most parents were recruited from databases of individuals involved in DSD advocacy groups or organisations, who are likely to represent a subset of more engaged parents. Some studies included parents who had expressed an interest in taking part in studies about DSDs, which may mean that their responses are not entirely descriptive of the whole population. In addition, most respondents of the interviews were mothers, which neglects the experiences of fathers. Despite these limitations, similarities with other situations, such as delivering a diagnosis of Down’s syndrome, strengthens their findings.11

Although delivering a diagnosis in a sensitive way is important for all congenital conditions, explaining a DSD diagnosis may come with its own additional challenges. This is due to the perceived stigma, public misconceptions and controversies relating to DSDs, for example, regarding societal attitudes towards gender and identity.12 Key recommendations for healthcare professionals regarding delivering the diagnosis and supporting parents are summarised in table 2.

Table 2

Recommendations for healthcare professionals

When delivering the diagnosis, to avoid information insufficiency or overload,13 Lundberg et al suggested that healthcare professionals explain the diagnosis in clear, non-medical language, over multiple interactions, to avoid ‘overwhelming’ parents.4 Furthermore, parents in multiple studies appreciated written as well as verbal information, such as diagrams and educational leaflets.3 4 9 13 14 These recommendations are congruent with literature regarding other genetic diagnoses; for example, when explaining a diagnosis of congenital hypothyroidism or cystic fibrosis.15

The tone of delivery was important to parents, and many preferred that healthcare professionals avoid being ‘overly apologetic’ or placing a large emphasis on fertility implications of the condition during initial appointments.13 16 In addition, caregivers wanted the diagnosis delivered in person, preferably by geneticists or doctors with more experience of DSDs, and to both parents at the same time.9 13 16 This is in keeping with the experiences reported by mothers of children with Down’s syndrome.11 Slipjer et al also recommended that parents and older children are fully informed about sex development, including karyotype, and how this may influence self-image.5 Furthermore, Crissman et al suggested that parents are sufficiently educated about biological sex, and how this does not solely determine gender identity. This information would enable them to exercise informed consent when making decisions around management such as genital surgery.14

Oliveira et al emphasised the importance of healthcare professionals acknowledging and normalising parental feelings of grief, as parents ‘mourn the loss of the…child they expected’.17 Bennecke et al found that 40% of 329 parents expressed a need for psychological support after diagnosis18; therefore, routine engagement with specialised psychological services, in line with The British Society for Paediatric Endocrinology and Diabetes’ (BSPED) Clinical Standards for the Management of DSDs, may help alleviate parental stress.19 In addition, many parents wanted specific support with how they could go about informing family members and friends of their child’s condition, in order to increase familial cohesion, and develop ‘family-oriented coping’ strategies.4 14 17 20 21

Multiple studies specifically looking at DSDs, as well as the BSPED clinical guidelines, recommended connecting parents with patient advocacy groups.4 13 16 19–21 Forging relationships with other affected families through support organisations has been shown to reduce the sense of isolation that caregivers feel.22 Healthcare professionals could help ‘empower’ parents to seek more knowledge of their child’s condition by signposting them to reliable external sources of information, such as trustworthy online resources, which they can then discuss with their doctor.22

Unfortunately, many parents felt that healthcare professionals lacked extensive, up-to-date knowledge of DSDs and often gave conflicting advice.16 20 21 Multiple studies suggested the need for increased knowledge of DSDs among healthcare professionals, for example, through online educational modules or teaching sessions.9 16 17 20

Clinical bottom line

  • The diagnosis should be given in person, through written and verbal information, in clear, non-medical language by a healthcare professional with good knowledge of differences in sex development (DSDs).

  • Healthcare professionals should help to identify and normalise parental feelings and concerns around diagnosis and provide access to further specialised psychological support.

  • Healthcare professionals could help empower parents by signposting them to accurate, up-to-date online educational resources, as well as to parent support groups.

Ethics statements

Patient consent for publication

Ethics approval

Not applicable.

References

Footnotes

  • Contributors AB is guarantor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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