A shared decision-making tool for individuals living with complete androgen insensitivity syndrome

Abstract

Reports exist regarding a gradual approach to the care of patients with differences of sexual development. Each patient and family have different values and styles of learning that have to be taken into account. The goals of care should include education about the condition, counseling of the patient and family, and a complete outlining of treatment options. Motivated by a call from the 2010 Health Reform Law for the use of shared decision-making tools and the emphasis placed on these issues by the DSD Consensus Statement, we sought to develop and implement such tools for the DSD population. ^1–3 Thus we developed an organized checklist for providers to share with a patients and families affected by CAIS beginning with the initial visit. The development of the document enlisted input from physicians, clinical coordinator, advocacy groups and affected individuals. It allows providers to explain the process of care and develop a plan for delivery of that care over multiple visits spanning six months or more. The checklist is divided into five sections: 1) An overview addressing how much information is desired and in what manner the patient prefers to obtain information; 2) A preferred words list so that the patient can choose nomenclature that is most comfortable; 3) A list of topics to review over the course of multiple visits; 4) A list of questions to be answered by the providers or other resources over time, and; 5) A list of concerns to be addressed before surgical intervention is considered. An organized approach to long-term delivery of compassionate care and accurate information can be facilitated for patients with CAIS by the use of a shared decision-making checklist. Documentation of the care delivery process can stimulate referral to peer support and promote fully informed consent for treatment decisions. The use of the checklist should encourage trust in the provider, as well as aid in identifying and addressing stressors for the patient and family. The checklist will be updated and revised as new treatments and advanced technology emerges.

Introduction

Complete androgen insensitivity syndrome (CAIS) is an X-linked, recessive genetic disorder affecting 1 in 20,000 to 1 in 99,000 individuals. ^4–7 Individuals with CAIS have XY chromosomes, with an androgen receptor gene mutation on the X chromosome that prevents androgen from influencing fetal development. They lack a uterus and ovaries and have testes but are externally phenotypically female. The 2006 Consensus Statement on management of intersex disorders published by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology placed CAIS under the 46, XY disorder/difference of sex development (DSD) subcategory. ² If not presenting with a hernia in childhood, CAIS is often diagnosed after absent menarche in adolescence.

The testes in CAIS can be located anywhere in the typical path of fetal descent, from the pelvis to the labia. Testis secretion of Mullerian inhibiting substance (MIS) suppresses development of the uterus, oviducts, and upper one-third of the vagina in utero. Although the testes produce male-typical levels of androgens, aromatase activity in the face of androgen resistance allows estrogen-mediated development with typical female external genitalia and absent or scant pubic and axillary hair during puberty. ⁸ Elevated pubertal testosterone and luteinizing hormone (LH) levels suggest androgen resistance including at the hypothalamic-pituitary level.

Gonadectomy was traditionally performed in CAIS due to the perceived risk of tumors in retained gonads that may be inaccessible to physical examination. This has life-long implications for both physical and mental health. Gonadectomy has been associated with suicidal thinking, and loss of hormones leads to osteoporosis. ⁹ Loss of androgens can affect sexuality; diminished libido is improved with testosterone supplementation. ¹⁰ More recently, there has been a call by providers and advocates alike for a moratorium on irreversible early interventions where there is no threat to health, and to delay surgical interventions until the patient can understand and consent. Some families and patients may desire interventions for potentially-stigmatizing differences, especially with social pressure for ‘normalization.’ However, with patients increasingly electing to delay gonadectomy indefinitely, the practice of gonadectomy in CAIS is moving towards a shared decision-making approach, where patients electing gonad preservation agree to careful surveillance to assess tumor formation. ^{11, 12}

Shared decision-making

Shared decision-making is defined as the process by which a provider and patient reach an agreement through collaborative deliberation. The resulting plan is presumably the most ideal treatment for that individual after discussing all options. ¹³ This model takes the patient’s and family’s values and opinions into account while relying on the expertise of the provider. There are several studies in the literature that evaluate the effectiveness of this process in adult and pediatric chronic conditions but few studies utilized a decision tool to aid in the process. ^14–16 Decision tools are available for several chronic illnesses, but none currently exists for DSD. ^17–19 The literature has highlighted the need for more shared-decision making tools for the DSD population. ^20–22

Decisional regret is distress after a medical decision has been made. ²³ This is of particular concern for a patient who has undergone an irreversible surgical procedure. Studies of decision-making in distal hypospadias demonstrated parental regret in 40–50% of parents participating. ^{23, 24} One goal of shared decision-making should be to reduce decisional regret in any population where surgery is offered as an option. Some studies have shown that shared decision-making reduces decisional conflict and regret. ^{25, 26}

Providers do not always communicate in the clearest way when talking to patients and families about treatment options for DSD. A study of DSD teams demonstrated that providers used strategic uncertainty to influence parents to make the “right” decisions, often presenting irreversible interventions as urgent and necessary. ²⁷ A case report exemplifies how parents may be unhappy with the way providers communicate with them, and lack confidence in their understanding of the information discussed. ²⁸ Sharing information provided by the medical team with family and friends can greatly reduce parental stress. ²⁹ This highlights the importance of assessing and documenting comprehension of educational material as part of evaluating the effectiveness of the shared decision-making process.

In CAIS, the shared decision-making process is ideally initiated at the time of diagnosis, often in adolescence. At this developmental stage, a shared decision-making tool can support adolescents’ active participation in planning treatment. Prior to delivery of educational information, this shared decision-making process should include an initial assessment of psychosocial risk, which is significantly increased in a third of families and may impair resilient adaptation. ³⁰ Psychosocial support may be provided by behavioral health clinicians and through peer support. Elucidation of parents’ values and hopes for their child throughout the life cycle may clarify the goals of treatment before specific options are presented. Consultation with affected families and adults can clarify the long-term consequences of treatments. A realistic review of both what is known and what is not known should avoid over-reliance on technological solutions to presumed psychological problems. A shared decision-making checklist (Figure A) can help guide discussions and a teach-back method of assessing understanding can be employed.

Shared decision-making checklist

Motivated by a call from the 2010 Health Reform Law for the use of shared decision-making tools and the emphasis placed on these issues by the DSD Consensus Statement, we sought to develop and implement shared decision-making tools for people affected by DSD. ^1–3

Shared decision-making checklists are meant to be living, dynamic tools to be edited over time with patient input as clinical practice evolves and the knowledge base expands. Because the use of shared decision-making checklists and other tools is relatively new with most chronic illnesses and non-existent in the DSD population, we created a checklist to be utilized in the adolescent CAIS population.

The checklist was designed and developed with input from providers, advocacy groups, and individuals living with CAIS. The checklist is divided into five sections. The first section is an overview that focuses on how the patient/family was made aware of the diagnosis and lays out the goals to be addressed during the process of using the checklist. At the outset of the process, it is made clear that the checklist is not to be completed in one visit but over time. Additionally, the goals of using the checklist may adapt as the patient matures. Patients are encourage to bring a close family member or friend to participate in the process, in addition to a parent. Non-parental friends and family act as additional support for the patient, sharing in the experience and advocating on their behalf. The medical team emphasizes throughout the use of the checklist and surrounding discussions that the diagnosis does not define the person and that it is up to the patient and family to determine the course of action.

During the overview, the values of the patient and family are assessed; questions are asked about how much information is desired and in what manner the patient/family prefers to obtain information. The patient/family values need to be at the core of the discussions as these may vary widely and differentiate the patients’ outcomes. The second section of the checklist discusses nomenclature and provides a list of preferred terms so the patient can ask for clarification and choose which terms should be used when discussing the anatomy and/or the condition.

The third section includes a list of topics for review over the course of multiple visits as well as a discussion of when and how much detail/discussion the patient or family would like on each issue. The topics include changes to be expected during puberty, sexual health, gonads and hormones, fertility potential, the genetics of CAIS, and sexuality and gender identity. Additional topics include how to discuss the condition with family and friends, challenges and successes, and a discussion about the extent of information-sharing with clinicians and others

The fourth part of the checklist is a list of questions that the patient and/or family should expect to ask providers (e.g. “Will I menstruate or have a period”). Patients and families are encouraged to meet with others affected by CAIS either at local in-person meetings or through advocacy organizations. A list of the relevant support or advocacy organizations is provided to the patient in this section.

The fifth part of the checklist is a section on gonad management. This includes topics such as hormone level testing and a list of concerns to be addressed before surgical options, including the option to defer or postpone surgery into adulthood are considered. The AIS Management Algorithm can help guide this discussion. ¹² We ask the patient/family if they have interacted with other patients, local community or online support groups. There is also an option to meet with a psychologist or other mental health provider one-on-one to discuss psychological factors related to diagnosis and to learn strategies for coping and resilience. This plan addresses delays in implementation of recommendations in the 2006 Consensus Statement that behavioral health clinicians should be an integral part of DSD care. ^2,31 The checklist facilitates discussion about the option and potential timing of surgery, as well as post-gonadectomy hormone replacement. This section is especially important in utilizing a teach-back method for patients to demonstrate understanding of the risks and benefits of surgical options including deferment. If a patient does choose intervention, the Pre-Procedure Checklist (Figure B) is utilized prior to surgery. The patient and clinical coordinator discuss each section with the patient “teaching” the coordinator to confirm understanding of the details surrounding the procedure (e.g., what is the procedure called, what to expect, what are the risks).

Discussion

Shared decision-making checklists and other decision aids can be a helpful medical adjunct for all DSD diagnoses but especially ones where there are questions regarding the necessity and timing of irreversible interventions. Though the care and management for CAIS can be complex, it can be made more manageable with an organized approach. Patients and families can participate in a straightforward treatment plan through careful planning and continued discussions with providers.

One limitation of using such a tool is provider variability of use with the patients, patient health advocates, and families. Providers may approach discussions about gonadectomy in diverse ways. For instance, one provider may subtly assign a positive valence to the choice of surgery as a tool to address certain types of malignancy risk while another may assign a negative valence to that decision with more emphasis on the unknown risks of elective gonadectomy in the long-term which is generally less studied yet has been characterized by patients and some research. This tool cannot control for how information is conveyed and used by the provider within the clinical encounter. More research is needed to better understand the way clinician biases interact with approaches shared decision making. Work is also needed to interrogate how to optimize this process and whether it improves decisional regret, psychologic, and other health-related outcomes for patients and families in both the short and long-term.

Another limitation is the scope of the tool, which focuses mainly on the intervention of surgery to irreversibly remove the hormone-producing gonads. CAIS-related medical care related to bone, sexual, mental, and urologic health are important factors to include in future tools that may improve both comprehensive learning and health care prioritization for patients in the long term. This tool represents a systematic approach to improving decision-making of patients with CAIS and can be further adapted to include these other areas of CAIS-related health. The shared decision-making approach and subsequent tools can help set up the course for compassionate care and may lead to long-term resiliency of the patient and family.