The Impact of Culture on Disclosure in Differences of Sex Development

Abstract

Differences of sex development (DSD) include a variety of complex congenital genitourinary abnormalities--whether sporadic or hereditary. The 2006 DSD Consensus Statement and 2016 Update Consensus Statement encourage better communication among providers, between providers and parents, as well as among providers, parents, and patients when developmentally appropriate.^{1, 2} However, a lack of clear communication about the diagnosis and its sequelae may occur at three levels: 1) disclosure from DSD patients’ families to their physician, 2) disclosure from patients to their families/communities, and 3) disclosure from the physician to the DSD patient. Additionally, there is a paucity of research available on how culture can impact disclosure among individuals with DSDs. This article discusses disclosure among the various stakeholders and briefly explores the impact of cultural expectations and beliefs with regards to disclosure.

DIFFERENCES OF SEX DEVELOPMENT

Differences of sex development (DSD) is a term used to describe a variety of complex conditions related to abnormalities with the genitourinary system in which there is a chromosomal, anatomical or gonadal anomaly in the development of the reproductive or sex organs.¹ These differences are congenital or genetic and can impact gonadal development, hormone production or hormonal response.

The term “disorder of sex development” was first proposed by the Consensus Statement on the Management of Intersex Disorders and was meant to replace previous terms such as “intersex,” “pseudohermaphroditism,” and “hermaphroditism,” which are often viewed as stigmatizing to patients.¹ Some individuals prefer different nomenclature such as “differences in sex development” or “divergence in sex development”.³ Further, there is a trend suggesting a reversion to using the term “intersex” because of the pathologizing nature of the word “disorder”.^{4, 5} Patients and caregivers report that using the term DSD or disorder of sex development is stigmatizing and suggests something is “broken”. On the other hand, some clinicians prefer the term “disorder” because it helps describe something that was often perceived as ambiguous.⁴ Additionally, some clinicians feel that if they do not medicalize the word, there could be some patients with a DSD who might ignore the inherent health risks of the diagnosis.⁶ Johnson and colleagues reported that among respondents in one large advocacy support group, 81% use the name of the specific diagnosis when describing themselves or their child, and 70% reported that their clinicians/physicians use the specific diagnosis as well.⁵ The next most common terminology used by patients and caregivers was “intersex” (61%), followed by “DSD” (50%). In concordance with these findings, a recent study reported that among clinicians of varying subspecialties, 80% use the diagnosis when discussing conditions with patients and families and 73% use the term “disorder of sex development”.⁷ Terminology is important as it can set the tone for how the relationship between provider and patient develops. If the patient or family feels uncomfortable with the terminology being used, the patient or family could withdraw, further hindering open communication and dialogue necessary for optimal care.

The 2006 DSD Consensus Statement and 2016 Update Consensus Statement encourage better communication among providers, between providers and parents, as well as among providers, parents, and patients when developmentally appropriate.^{1, 2} However, disclosure between these groups is often lacking. The aim of this review article is to elucidate some of the factors which may influence disclosure and to provide an overview of the current state of the literature in order to facilitate future research on disclosure in this population. Highlighting the literature on disclosure can affect clinical care and facilitate better support, communication, and outcomes for patients and their families. Additionally, cultural factors, which also may affect disclosure, are explored as there is a lack of this discussion in the current literature.

DISCLOSURE

Disclosure from Providers to Patients

For the DSD population, insufficient disclosure from physician to patient has been a concern. Historically, disclosure from some healthcare providers to patients has lacked specificity, and this has resulted in patients not being well informed about their diagnosis or condition.⁸ The American Medical Association states that it is “unethical to withhold medical information from patients” and it is “no longer standard practice to withhold information about a patient’s DSD diagnosis”.⁹ Kemp described a scenario where a woman who was diagnosed with androgen insensitivity syndrome (AIS) was kept in the dark about her condition and treatment.¹⁰ As a result of the secrecy, the patient went through much of her life without the support she needed. According to Kemp, it was only as an adult that she learned about her diagnosis and was able to successfully cope and gain support from others who have AIS.

In other study, Crissman et al. reported that parents felt the sharing of information from the child’s medical team greatly reduced the amount of stress felt by the family.¹¹ Open dialogue between parents and providers can help parents feel more comfortable and less distressed about their child’s condition. Because parents are often confused when first learning about their children’s DSD diagnoses, continued fostering of open dialogue and ongoing discussion during each stage of the child’s development is crucial to providing parents the opportunities they need in order to develop a sense of mastery and competency as they continue to advocate for their children’s medical and psychological treatment. McCauley outlines best practices and considerations for discussing the DSD condition and treatment plans with patients.¹² Providers should engage in open dialogue and communication while discussing aspects of the condition in a supportive fashion. It is recommended that providers normalize terminology and incorporate repetition when discussing the condition.¹²

Disclosure from Parents to Patients

The 2006 DSD Consensus Statement and 2016 Update Consensus Statement recommendations include open dialogue and discussions between not only the clinicians and parents, but also open dialogue between parents and child as soon as the child is at a developmentally appropriate age for comprehension.^{1, 2} Sandberg and Mazur further recommend educating children on their condition, stating that such education is “a vital aspect of psychological management”.¹³ In order for parents to foster open and accurate communication with their children, parents must be adequately informed about their children’s diagnoses and proposed treatment strategies from the medical and clinical team. Equally important is for providers to recognize that some parents might be unwilling to share information regarding the diagnosis with the child. However, as a child enters adulthood, open and compassionate communication can foster a positive sense of self and wellbeing.¹²

Further evidence that children should be told about their DSD as early as possible may be inferred from research regarding parental disclosure of sperm donor origins.¹⁴ Turner and Coyle reported that adults who discovered the circumstances of their donor parentage later in life were more likely to mistrust family members and experience a sense of abandonment by the donor and medical providers.¹⁵ While secrecy in the DSD community has been and is still quite common, establishing open, honest, and supportive communication with individuals who have DSD is advisable in order to ensure the best possible outcomes for these patients.

Cultural sensitivities and family roles need to be taken into account when considering how the family discloses information to the patients.¹⁶ For example, some cultures practice paternalism or are traditionally patriarchal or believe that the males in the family hold the authority.^{17, 18} Other families believe that personal matters are not meant to be discussed and the family comes first over the individuals, which includes the risk of one bringing shame to the family.¹⁸ Additionally, race, ethnicity, culture and lack of cultural awareness by practitioners can lead to health disparities, further complicating the care for individuals with DSD.¹⁹ Another factor to consider is the child’s age at which they are informed of their diagnosis. Adolescents do not always understand the full implications that may come with chronic illness, and they are typically more sensitive about their bodies than younger children are.²⁰ As adolescents become more independent, communication with parents may decline. As such, they might be more inclined to hide their true feelings so parents need to stay vigilant to maladaptive behaviors.^{21, 22}

Lack of Disclosure from Patient to Provider

Generalized fear of medicine or lack of trust in the system may lead certain cultures to avoid disclosing sensitive information to healthcare providers. Several studies evaluating the public’s perceptions of research and barriers to recruitment have revealed a central theme of mistrust, as well as a belief that providers or researchers would not be forthcoming with information regarding the study.^23–25 In the DSD community in particular, distrust exists between advocates and providers because of differing views on the use of anecdotal evidence versus rigorous scientific research regarding current DSD treatments.²⁶

Other reasons for patients’ non-disclosure to providers have been attributed to age, education level, socioeconomic status, and cultural beliefs about disease and medicine.^{27, 28} Additionally, in the past, medical providers have inadvertently caused humiliation of patients with DSDs. Certain providers who are not well-trained in DSD conditions may repeatedly examine a child’s genitalia without an organized protocol that minimizes such examinations; this unnecessary scrutiny can lead parents to question the medical community’s judgment when it comes to providing quality care to their child.¹¹ Having knowledgeable, multidisciplinary providers who follow a standardized protocol and elicit appropriate information from the parents from the start can reduce the number of these unnecessary and potentially damaging examinations.

Lack of Disclosure from Patient to Others

The stigma of being different from what is perceived as normal is a common theme in certain health conditions and can breed secrecy and shame.²⁹ For example, it is well known that many patients with HIV may avoid disclosure due to fear of stigma and discrimination, shame, and fear of causing conflict in their relationships.³⁰ A recent study by Ernst et al. shared the disclosure experience among women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.³¹ The participants stated that a prerequisite for disclosure was the type of relationship they had with a particular person. For friends, it was the closeness they shared, and for potential partners, it was the sense that a relationship should be open and honest as well as allow the partner to opt out of the relationship once it is clear that having child in a “traditional sense” may not occur.

Fears of stigma – particularly fears about the child being ostracized – are common concerns among parents of children with a DSD.^{11, 32} When a child is born with a DSD, the family can experience confusion, guilt, depression and anxiety.^{33, 34} Parents often fear that the condition will be difficult to explain to others, that others would not understand the information presented, or that others would ask questions the parents did not want to answer.¹¹ As compared to fathers, mothers are more likely to report higher degrees of stigma, which in turn could result in withholding information from others.³² Stigma is one factor that may affect whether a parent would disclose information about the DSD diagnosis to others.¹¹ However, when parents do choose to disclose, they often do so only to a select group of people, such as close family members or medical specialists. Children or adults with DSDs can be neglected or ostracized in any culture. For example, in India and Vietnam, derogatory terms are often used for individuals born with ambiguous genitalia. These individuals live on the fringe of society, are feared, and treated poorly.³⁵ In general, cultures that have a paternalistic view typically have little to no disclosure to others outside the family or have differing ideas on how disclosure should be handled.^{36, 37}

HOW CULTURE CAN AFFECT DISCLOSURE

Culture is a set of shared beliefs, attitudes, habits, norms, customs, rituals, styles and artifacts that influences a group’s behavior and attitudes within the context of their environment.³⁸ Cultural beliefs influence health behavior and practices and ideas about diseases and their effect on the body, which can influence participation in health screening and prevention. As such, culture can drive decisions about health, and the patient or family might not even be aware of those effects.³⁸

There is little information available regarding how cultural beliefs affect individuals with DSD. In various cultures, DSD diagnoses are often misunderstood, and treatment plans are not standardized. Additionally, poverty and lack of resources can contribute to lack of access to medical care for children with DSD.³⁵ One central aspect affecting cultural decision making is the issue of gender.³⁸ In the case of DSD or intersex, these definitions can be non-binary and more complex and can add stress to families or individuals who feel forced to choose one gender over another. As such, parents may feel the need to choose a gender based on cultural or societal norms or beliefs. Moreover, cultural preference for one gender over the other might lead to specific gender assignment of patients with DSDs. Researchers in Pakistan discovered that boys with ambiguous genitalia were more likely to be brought in for medical examination than girls.³⁹ Another paper reported that in Iran, patients with DSD are referred to one center where the gender is decided by a psychiatrist and the family, and then the child is treated as soon as possible medically and/or surgically, based on the decided gender of rearing.⁴⁰ In contrast, some Islamic cultures express the notion that a person may not be “wholly-male” or “wholly-female” but rather both or neither.⁴¹ Native American cultures have long embraced that gender is not static or binary, and some tribal communities embrace the idea that there are six different genders. The term “two-spirit” was coined, in part, to escape the idea of binary genders and signal gender fluidity and the non-linearity of identity.^{42, 43} Native societies believe that a person who is two-spirited has a special calling and is free to express themselves in ways that differ from others.⁴⁴

Another example of gender fluidity occurs in the Dominican Republic. There are communities where 13% of the population has 5-alpha reductase deficiency, and as such, gender roles and norms are challenged.⁴⁵ 5-alpha reductase deficiency causes the body to appear female at birth and these children are reared as female in the community. When the child reaches puberty, their bodies begin to masculinize, and most often the child will transition to being male. Some children in the community continue to identify as female but the majority identify as male gender.⁴⁶

The term “intersex” describes an individual whose body defies the cultural norms of traditional male or traditional female.⁶ Historically, gender assignment would rest on whether the child was one of two genders, identified as either binary gender, and held the traditional roles of those genders.⁴⁷ Moreover, there was an emphasis that gender identity should be consistent with the gender in which the child was reared. John Money and colleagues first introduced this “optimum gender of rearing” policy, in the 1950’s at John’s Hopkins University.^{48, 49} This practice may hinder communication within the DSD community and can be psychologically damaging to the patients and/or their families.⁵⁰ Thus, when treating DSDs there should be a focus on better communication with the patients about their condition, when developmentally appropriate.⁵¹ The 2006 Consensus Statement and 2016 Update Consensus Statement encourages providers to move beyond explicitly dwelling on gender identity or gender roles and to emphasize a broader picture, focusing on aspects of rearing that relate to quality of life.^{1, 2}

The need to choose one gender over another is also becoming less important in medical settings. Laws and resolutions have been introduced that try to shift the paradigm from emphasizing the need for newborn “normalizing” surgeries where a child is made to look more typically male or female. Additionally, many advocates and governmental agencies feel the surgeries are unnecessary and potentially harmful.^52–61 Creating an option for a third gender on birth certificates and medical records for those who are born with atypical genitalia has also occurred. Germany was one of the first countries to allow parents to leave the gender designation on a birth certificate blank or to describe the gender as “indeterminate” if a baby is born with atypical reproductive or sexual anatomy, and many other countries are following suit in allowing a third gender to be specified.⁶¹

CONCLUSIONS

Due to the level of real or perceived stigma that continues to surround DSD, cultural and past experiences of the families should be taken into account. There is no predominant policy with regard to disclosure within the DSD community. Clinicians and counselors should be sensitive to the fact that disclosure takes on different meanings in different situations, and people have different interpretations of what disclosure means to them. It is equally important that clinicians should take into account their own cultural bias while discussing diagnoses and treatment options with patients and families. In certain cultures – such as Asian, Hispanic or Native American cultures – where the family unit is the central component in one’s treatment, a provider should consider how the family would respond to the knowledge of the DSD and determine whether the immediate and extended family members should be consulted or asked to take an active role in the patient’s care. Consultation with a mental health professional is beneficial in these instances.

Additionally, the treatment plan for a DSD patient should focus on general health, psychosocial support and education while taking into account the family norms or cultural expectations. Culturally sensitive education about the diagnosis, treatments, and how to utilize the multidisciplinary team is crucial in providing families with appropriate strategies for developing the necessary coping skills for positive patient outcomes. Peer support groups can also be of significant benefit not only to the patient but also to the parents or family as a whole. Research has shown that support groups can be beneficial to a person dealing with a chronic condition; many individuals with DSD participate in peer support groups with positive benefits.^62–65 Accordingly, clinicians should offer families resources such as evidence-based literature and referrals to advocacy or local support groups.

For many reasons, shared decision-making with patients and families is becoming increasingly important. In 2010, healthcare reform encouraged medical practice to shift from a physician directed treatment plan to shared decision making between patient, family, and the healthcare provider(s).⁶⁶ The DSD Consensus Statement and 2016 Update encourage better communication among providers, between providers and parents, and among providers, parents, and patients when developmentally appropriate.^{1, 2} In order to have the provider and the parents and/or patients collaborate on medical decisions, it is necessary to have streamlined shared decision-making tools that move through the diagnosis and treatment options and terms in a step-wise, systematic approach. Studies suggest that improving communication among providers and families/patients and increasing psychosocial support is an essential part of caring for individuals with DSD.¹¹ Improving communication may also help to prevent surgery that is not medically necessary — a problem that has been discussed by advocates and providers alike. One study reports the quality of sexual relationships is impaired after surgical correction in 46, XY and 46, XX DSD individuals.⁶⁷ Providing up-to-date research and current management options is pivotal to providing optimal care for this population. Additionally, a discussion on the benefits of disclosure, as part of a shared decision-making process, is beneficial to clinicians, patients and families alike. Peer support programs can help foster a positive sense of well-being and support role modeling techniques. Patients and families as well as clinicians benefit from having open discussions on what type of information is disclosed, when and to whom.

Providers strive to adhere to ideal cultural competency components when delivering care, but with DSD families, there should be a particular emphasis in training clinicians and researchers in terms of culture, gender bias, gender identity, and spiritual beliefs about healthcare. The resulting research could inform the psychoeducational strategies that might be implemented with DSD families in order to increase relevant disclosure, understanding, acceptance, and resilience that is needed. Future research might include comparative analyses among not only differing ethnicities and cultures, but also among the subgroups of varying types of DSD diagnoses. Finally, in order to ensure the best possible outcomes for patients and their families, it is imperative that issues surrounding DSD disclosure continue to be included in current and future research.