Decisional Regret about Surgical and Non-surgical Issues after Genitoplasty among Caregivers of Female Infants with CAH

Structured Summary

Introduction:

Caregivers of female infants with congenital adrenal hyperplasia (CAH) often confront complex medical decision-making (e.g., early feminizing genitoplasty).

Objective:

This study aimed to evaluate the relevant medical decisions and subsequent decisional regret of caregivers following their child’s genitoplasty.

Study Design:

Caregivers (N = 55) were recruited from multidisciplinary treatment programs for participation in a longitudinal study. Qualitative data was collected at 6–12 months following feminizing genitoplasty to evaluate caregiver-reported decision points across their child’s treatment. Quantitative exploratory analysis evaluated pre-operative predictors of subsequent decisional regret.

Discussion:

When prompted about their decision-making and potential regret, most caregivers (n = 32, 80%) reported that their daughter’s genital surgery was their primary medical decision. Specific themes regarding genital surgery included the timing and type of surgery. Most caregivers reported no decisional regret (62%), with 38% reporting some level of regret. Greater pre-operative illness uncertainty predicted heightened decisional regret at follow-up, p = .001.

Conclusion:

Two-thirds of caregivers of female infants with CAH reported not regretting their decision-making. Nevertheless, over one-third of caregivers reported some level of regret regret, suggesting the need for improvements in shared decision-making processes. Many, but not all, families reported that this regret was related to surgical decision-making. Reducing caregiver illness uncertainty (e.g., providing clear information to families) may increase their satisfaction with decision-making. Further research is needed to determine how the evolving care practices surrounding early genitoplasty will impact families.

Introduction

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency occurs in approximately 1 in 10,000 to 20,000 live births [1]. Caregivers of female infants with CAH face unique decisions, including whether to pursue feminizing genitoplasty. Caregivers often report feeling encouraged or even pressured by their child’s health care providers to make these decisions while their child is still an infant, leading to feelings of distress or being overwhelmed which may complicate the decision-making process [2,4,5]. Historically, genitoplasty has been part of routine care, with the majority of caregivers consenting to surgical intervention [6]. However, some hospitals have changed their care practices to delay performing vaginoplasty or clitoroplasty until children may provide consent/assent, with variable application of these policies to the CAH population [7,8]. Considering the complex medical decisions that families of girls with CAH face, the empirical investigation of decision-making and decisional regret in this population is needed to inform evidence-based care.

Negative decision-making experiences (e.g., poor provider communication, medical complications before, during, and after medical decision-making) may lead caregivers to eventually feel distress or remorse over their decision to proceed with early genitoplasty, or other treatment decisions, for their daughters, a situation that has been referred to as “decisional regret” [9]. Broadly, decisional regret of patients and caregivers has been linked to increased dissatisfaction with medical care, psychosocial maladjustment, and poorer quality of life in a number of medical populations [9,10]. Szymanski and colleagues [11] found that approximately 20% of parents of girls with CAH report long-term decisional regret with regard to their child’s feminizing genital surgery. While this study provides initial data on the long-term prevalence of decisional regret for caregivers who opted into feminizing surgery, the range of other possible early medical decision points (e.g., the selection of medical providers) for these CAH caregivers and decision-related regret remains understudied.

Additionally, data on the predictors of decisional regret in this population are lacking. Existing research with parents making decisions on genital procedures (e.g., hypospadias, disorders/differences of sex development [DSD]) highlights some potentially important factors including parental secondary or college education [12,13], increased child surgical complications [14], and parental dissatisfaction with surgical outcomes [12]. Preliminary work also suggests that illness uncertainty is associated with decisional regret in parents of children with a DSD [13]. Illness uncertainty refers to how an individual (or parent) understands an illness or its course [15], and it has been consistently linked to psychosocial maladjustment in parents of youth with chronic conditions, including DSD [16–18]. Previous research suggests that feelings of uncertainty are relevant to the experience of caring for a female infant with CAH [4,19], and thus illness uncertainty merits further investigation in the context of medical decision-making and decisional regret.

This preliminary study had four primary aims in regard to the evaluation of decisional regret among a cohort of caregivers of female infants with CAH. The first was to qualitatively assess which decisions caregivers make for their children that may result in subsequent regret. Although previous research has assumed genital surgery as the primary decision-making process for these families, this study sought to better understand the possible range of decisions caregivers endorsed during the first year of their child’s diagnosis through an inductive approach. The second aim was to evaluate levels of caregiver decisional regret within the year following genitoplasty, expanding on the evaluation of long-term regret presented by Szymanski and colleagues [11]. The third aim included exploratory analyses of relevant demographic and medical predictors of caregiver decisional regret by utilizing parent-report, physician-report, and medical record data. Guided by the broader literature evaluating regret in caregivers of infants with atypical genitalia, we hypothesized that younger child age at the time of surgery [12], caregivers’ level of education (e.g., secondary education, Bachelor’s education) [12,13], absence of family history of CAH [12], worse parent rating of cosmesis [12], and greater number of surgical complications [10,14] would be associated with increased decisional regret. The final aim of the study was to examine the relation between illness uncertainty and parents’ regret, hypothesizing that greater illness uncertainty prior to genitoplasty would be associated with increased decisional regret following surgery.

Materials and Methods

Caregivers of children with 21-hydroxylase deficiency with Prader scores of 3 to 5 were recruited from nine hospitals with multidisciplinary treatment programs as part of an ongoing, prospective study of DSD [6]. Up to two caregivers per child with a DSD could participate in the study. Institutional review board approval was obtained for this study across the associated hospitals and institutions. All caregivers were consented during regularly scheduled visits at their respective DSD clinics and completed pen and paper questionnaires on their demographic information, child medical history, as well as caregiver psychosocial functioning. Participants were compensated for cost of travel for clinic appointments. Inclusion criteria for the larger project included having a child 1) younger than 24 months at the time of enrollment, 2) born with atypical genitalia (as defined by a Prader score of 3 to 5 for 46, XX DSD and a Quigley score of 3 to 6 for 46, XY DSD or sex chromosome DSD), 3) with no history of genital surgery, and 4) with no organ malformations other than those related to the reproductive system. Caregivers were at least 18 years old, proficient in either English or Spanish, and had no current psychiatric diagnoses at the time of study enrollment. Suorsa and colleagues [20] have previously summarized recruitment and procedures of the larger project. Families were included in the current study if they elected for genitoplasty and had completed the decisional regret measure within 6 to 12 months following genitoplasty.

Demographic and Medical Information

At pre-operative and follow-up assessment, caregivers completed a demographic form that inquired about their child’s age and date of birth, gender of rearing, and DSD diagnosis. Additional caregiver information was collected including age, gender, marital status, race/ethnicity, education level, yearly family income, and ratings of cosmesis. Child medical information was collected either via physician report (e.g., Prader score) or medical chart abstraction (e.g., post-genitoplasty complications) within approximately one year following pre-operative assessment. Further descriptive information on the procedures and post-operative complications of the current sample has been previously published [6].

Decisional Regret

Decisional regret was assessed using The Decisional Regret Scale (DRS), a validated self-report measure of regret regarding health care decisions [9]. For the current study, when completing the measure, parents were instructed to reflect on the first decision they made about their child’s ambiguous genitalia after talking with their physician. While the DRS was not developed for specific disease groups, the initial instructions (e.g., Reflect on a recent medical decision) allow for customization to assess decisional regret with regard to a specific decision for a given clinical sample (Brehaut et al., 2003). The current study instructed parents to reflect about the first medical decision they made for their child’s medical care. Participants then rate the extent to which they agree with five statements on a 5-point Likert scale ranging from “Strongly Agree” (1) to “Strongly Disagree” (5). Example items include, “I regret the choice that was made,” and “I would go for the same choice if I had to do it over again.” We used the conventional categorical classification of scores: 0 = “no regret”, 1 to 25 = “mild regret,” 26 to 100 = “moderate to severe regret” [11,12]. Internal consistency was good (α = .86), and this measure was adapted to include one qualitative question: “When answering the Decision Scale, what decision were you specifically thinking of?” Although this item is not used in scoring the measure, it offers an opportunity to understand salient decisions for caregivers that are associated with their quantitative scores of regret.

Illness Uncertainty

Caregiver illness uncertainty was assessed preoperatively using the Parental Perceptions of Uncertainty Scale (PPUS; Mishel, 1983), a validated 31-item self-report measure of caregiver uncertainty about their child’s illness, its course, and treatment. Participants respond to items on a 5-point Likert scale ranging from “Strongly Disagree” (0) to “Strongly Agree” (5). Example items include, “I am unsure if my child’s illness is getting better or worse,” “I don’t know when to expect things will be done to my child,” and “My child’s treatment is too complex to figure out.” Participant responses are summed to create a total score, in which higher scores indicate greater caregiver perceived illness uncertainty. The PPUS also examines four specific components of illness uncertainty: 1) Ambiguity, 2) Lack of information, 3) Lack of clarity, and 4) Unpredictability. The PPUS has demonstrated good internal consistency in previous studies [17,18] and in the current sample (α = .90).

Data Analyses

Qualitative responses from the DRS write-in item were analyzed using a structured template approach. A coding scheme was developed by 2 authors to identify themes and their frequency. Participant responses were categorized into themes by each researcher and discrepancies between the 2 authors were resolved through discussion. Average inter-coder reliability was greater than 90%.

Bivariate correlations (Pearson and point-biserial) and multivariate regression analyses were conducted to explore predictors (e.g., demographics, medical factors, uncertainty) of post-genitoplasty decisional regret. Variables significantly related to regret in bivariate correlations were entered as predictors in the multivariate regression analyses.

Results

Participants (N = 55) were primary and secondary caregivers of girls with CAH (N = 30). Caregivers included biological mothers (n = 29, 53%), biological fathers (n = 23, 42%), two adoptive parents, and one grandparent. See Table 1 for further demographic and medical information.

Table 1.

Family Demographic and Child Medical Characteristics

Variable	Child (N = 30)	Caregiver (N = 55)
Mean Age (SD)	9.0 months (7.0)	32.5 years (6.1)
Gender
Female (%)	30 (100.0%)	30 (54.5%)
Male (%)	--	25 (45.5%)
Race
Black/African American (%)	--	2 (3.6%)
White/Caucasian (%)	--	42 (76.4%)
Asian/Pacific Islander (%)	--	1 (1.8%)
Native Hawaiian/Native American (%)	--	2 (3.6%)
Multi-Racial (%)	--	8 (14.5%)
Ethnicity
Hispanic/Latino	--	12 (21.8%)
Non-Hispanic/Latino	--	43 (78.2%)
Income Level
$0 – 14,999 (%)	--	2 (3.6%)
$15,000 – 29,999 (%)	--	9 (16.4%)
$30,000 – 49,999 (%)	--	6 (10.9%)
$50,000 – 69,999 (%)	--	7 (12.7%)
$70,000 – 89,999 (%)	--	10 (18.2%)
$90,000 – 99,999 (%)	--	4 (7.3%)
$100,000+ (%)	--	17 (30.9%)
Education Level
< Bachelor’s Degree (%)	--	26 (47.3%)
Bachelor’s Degree (%)	--	19 (34.5%)
> Bachelor’s Degree (%)	--	10 (18.2%)
Mean Child Age at Surgery (SD)a	13.6 months (8.4)	--
Mean Prader Score (SD)	3.5 (0.7)	--
Mean Caregiver Rating of Cosmesis (SD)	--	2.47 (0.8)
Family History of CAH (%)	--	12 (21.8%)
Number of Post-operative Complications
0	24 (80.0%)	--
1–2	4 (13.3%)	--
3+	2 (6.7%)	--
Surgery Type a
Vaginoplasty	11 (36.7%)	--
Vaginoplasty & Clitoroplasty	18 (60.0%)	--

Note. Information collected at baseline unless otherwise stated.

^an = 29.

Qualitative Results

Fifty-five caregivers completed the DRS, with 38 providing qualitative responses. Caregivers who did (69%) and did not (31%) provide qualitative responses did not statistically differ on DRS scores, t(52) = −.865, p = .391. Of the 38 responders, 31 (82%) discussed genital surgery in reference to the decision they were referring to. Some broadly referenced surgery, while others reported specific procedures (e.g., “reconstructive surgery,” “vaginoplasty,” “labiaplasty,” and “urogenital sinus correction”). Among caregivers discussing surgery, 2 themes emerged. The most salient included timing when surgery occurred. Some caregivers reported “deciding to do surgery as soon as possible.” The second was type of surgery. Caregivers differentiated between medically necessary and cosmetic procedures. One caregiver reported deciding whether or not “to have clitoral reduction as part of the surgery.”

Of note, the remaining responders did not report on the decision referenced when completing the DRS and instead affirmed their beliefs that they made the “right decision” for their child and family. Two representative quotes include, “The decisions I’ve made for my child, I do not regret,” and “It was the right decision.”

Quantitative Results

The median DRS score was 0 (Mean = 7.72, SD = 12.27, Range: 0 to 45). Most caregivers reported no decisional regret (n = 34; 61.8%); 29.1% (n = 16) reported mild regret; and 9.1% (n = 5) reported moderate to severe regret (see Figure 1). Caregivers (n = 31) who reported genital surgery as their major medical decision had similar decisional regret scores to the overall sample (Median = 0, Mean = 8.55, SD = 14.04, Range: 0 to 45). Most of these caregivers reported no decisional regret (64.5%; n = 20); 19.4% (n = 6) reported mild regret; and 16.1% (n = 5) reported moderate to severe regret. Mean illness uncertainty was 61.00 (SD = 14.63) in the total sample of caregivers.

Figure 1.

Levels of Caregiver Decisional Regret measured by the Decisional Regret Scale

Note. Conventional categorical classification of scores was used: 0 = “no regret”, 1 to 25 = “mild regret,” 26 to 100 = “moderate to severe regret.”

Exploratory analyses identified several statistically significant correlates of decisional regret. Caregivers with a bachelor’s degree prior to surgery reported higher DRS scores at follow-up assessment than caregivers without a degree, r_pb(53) = .34, p = .011. The other demographic variables, including child’s age at pre-operative assessment and caregiver demographics (age, gender, income, race, and ethnicity), were not significantly associated with DRS scores (ps = .326 – .853). Younger child age at the time of genitoplasty was associated with greater caregiver regret, r(51) = −.30, p = .027. In terms of medical predictors of decisional regret, Prader score, post-operative complications, surgery type (vaginoplasty only vs. vaginoplasty and clitoroplasty), family history of CAH, and caregiver preoperative rating of cosmesis were not significantly associated with subsequent regret (ps = .080 – .746). Finally, greater preoperative illness uncertainty was related to heightened regret, r(51) = .53, p < .001.

Multiple Regression Analysis

Significant correlates of decisional regret were entered in multiple regression analyses (N = 52). Predictors included caregiver bachelor’s education, child age at time of surgery, and caregiver illness uncertainty. The model was significant, F(3,48) = 7.82, p < .001, R² = .33, with greater illness uncertainty prior to surgery (β = .45, p = .001) predicting greater decisional regret at follow-up. Neither caregiver education (β = .16, p = .233) nor child age at time of surgery (β = −.13, p = .305) were significant predictors in the model.

Discussion

The first aim of this study was to qualitatively assess those decisions caregivers identify when responding to the DRS for their female infant with CAH. The majority of caregivers noted that surgery was their primary decision, consistent with research noting surgery as a primary decision-point for caregivers of girls with CAH [6]. Caregivers noted specific aspects of surgery including timing and type of surgery as relevant to their decision. Two-thirds of caregivers also affirmed that they did not regret their decision making. This finding may be explained by the moderate to severe genital atypicality observed in this sample (i.e., caregivers might view this procedure as necessary).

The current study also characterized caregivers’ decisional regret based on DRS scores. Over one-third of caregivers reported mild to severe regret, which is a higher proportion as compared to previous research with parents of girls with CAH (38% versus 21%) [11]. Although speculative, it is possible that our sample of parents of girls with moderate to severe genital ambiguity (the group targeted for study) reported more regret than prior research because of the nature of heightened severity of their child’s condition. However, as the DRS is a sensitive measure for which small amounts of regret are categorized as “mild regret,” this mild regret category may be conceptualized as fairly minimal regarding potential real-world significance. A prior study of parents of girls with CAH extended the DRS coding system to categorize “strong” and “very strong” regret, and we did not observe these levels of regret in the present sample based on post-hoc evaluation [11]. The percentages of regret in the present study were lower than studies of parents of children with hypospadias [12,14] and children receiving tracheostomy [21]; however, they were higher than previous studies with parents of children with cancer [22,23].These differences may reflect that although genitoplasty is not a life-saving procedure (i.e., unlike cancer treatment), caregivers view these procedures as valuable and important [2]. Of note, a recent international study of patients with CAH found a similar proportion of regret to that found in our study, with 61% reporting that they strongly disagree that they would have been “better off” without the surgeries performed on them in childhood/adolescence [24].

Finally, this study explored longitudinal predictors of regret for caregivers. Although younger child age at genitoplasty and caregiver college education were linked to heightened subsequent regret, caregiver illness uncertainty emerged as the strongest predictor of subsequent regret. In other words, caregivers who better understand their child’s condition before making medical decisions are less likely to experience regret. It has been previously reported that parents of females with CAH prefer that information about their child’s condition and medical options to be provided in everyday terms (i.e., without medical jargon) and desire both verbal and written information [2]. Illness uncertainty is also modifiable with psychosocial intervention that teaches caregivers to recognize and adaptively respond to heightened uncertainty through problem-solving strategies such as improved communication approaches and stress reduction techniques [25]. Thus, provider-initiated changes in communication practices and clinical care might alleviate parents’ uncertainty and subsequent decisional regret.

Limitations

Of note, the sample of caregivers in our study is relatively small and homogenous (e.g., majority White and affluent, moderate to severe genital ambiguity), limiting the statistical power and generalizability of our findings. Given the limited research on regret in our population of interest, we believe that conducting exploratory analyses with many predictors was warranted despite our concerns for statistically low power in our sample. As small sample sizes are common in research on rare medical conditions such as CAH, researchers in the field might consider methods for addressing these challenges. For example, although the current study used a multi-site network of interdisciplinary clinics within the US, international collaborations would greatly enhance the methodological quality of research on families with CAH. Furthermore, our measure of decisional regret, although perhaps the best available tool currently, is brief and vague in its content. Measures designed for the CAH population that address multiple, specific decisions are needed. Additionally, although our open-ended, qualitative item provided some information on the content of decision-making/regret for caregivers, face-to-face interviews are critically needed for the continuation of this work as they typically provide rich information for researchers. Finally, although prior work with the decisional regret measure in other populations have not asked respondents to state specific decisions they made, the controversial nature of genital surgery makes regret with respect to this decision of strong interest to providers of infants with CAH. In light of all of these considerations, we believe that our results should be interpreted with caution.

Conclusion

Caregivers of girls with CAH are confronted with complex decisions regarding genitoplasty for their children, and in the current study many report limited regret following their choice. However, over one-third of caregivers reported mild to moderate regret, supporting the need for robust shared decision-making processes for this population. It is unknown how caregivers of children will respond to changing care practices regarding the availability feminizing genitoplasty. Continued investigation of decisional regret in larger, more diverse samples and with the patients who received genitoplasty is needed, particularly as models of care evolve. Nevertheless, in a sample of caregivers who elected for genitoplasty, our study identified one modifiable predictor of decisonal regret, illness uncertainty. Research must continue to investigate factors predicting decisional regret for families of children with CAH.