Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Abstract

Context

The goal of this review is to move beyond summarizing what is known about psychosexual development in females with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency—commonly studied as a natural experiment to understand prenatal androgen effects in 46,XX individuals. Instead, it will explore the various aspects of the condition that significantly impact the daily lives of both male and female patients and their families, with a particular focus on the implications for psychosocial, educational, and vocational adaptation.

Evidence Acquisition

This work represents a selective, yet balanced review of papers highlighting potential threats to positive psychological adaptation in both male and female individuals with CAH.

Evidence Synthesis

This review outlines the effects of both cross-cutting risks (such as challenges related to parenting and healthcare management) and CAH-specific risks (including growth and appearance changes, psychiatric and neurocognitive issues, reduced reproductive function and interest in parenting, and masculinization in girls and women) on psychosocial adaptation. Opportunities for optimizing psychological outcomes of those with CAH are presented.

Conclusion

Routine psychosocial screening of patient and family risk and resilience factors is recommended to identify areas of concern applicable to individual patients and families. Such screening should include assessment of both cross-cutting and condition-specific factors. This, in turn, provides a pathway forward for providing quality team-based patient-centered care.

Major advances in therapeutics for specific pediatric conditions have strongly contributed to a disease-specific, or “categorical,” approach to discovery and the delivery of healthcare. In the case of classic 21-hydroxylase congenital adrenal hyperplasia (hereafter referred to as CAH), this approach has contributed to a better understanding of genetic factors and progress in both medical and surgical management (1). With regard to psychological aspects of CAH, a similar categorical approach has utilized 46,XX CAH as a “natural experiment” (2, 3) for the study of prenatal androgen influences on the process of psychosexual differentiation (ie, gender identity, gender roles, and sexual orientation) and cognitive function (4, 5).

The goal in this review is to go beyond summarizing what is known about psychosexual development in females with CAH by considering the multiple features of the condition that have the potential for significantly impacting the daily experiences of patients, both male and female, and their families, highlighting the implications for psychosocial, educational, and vocational adaptation. Developmental pediatricians in the 1970s and 1980s emphasized the shared impact of chronic health conditions on children and their families (6, 7). This “noncategorical” approach recognizes that successful developmental trajectories are shaped by both the unique aspects of the specific chronic condition and the shared experiences of those with chronic health conditions encountered in the psychosocial environment and the healthcare delivery system (8-12).

This selective review of papers highlighting potential threats to positive adaptation in CAH begins by describing some of the challenges that any chronic pediatric illness imposes on patients and their caregivers. The review then examines the influence of specific CAH features—such as appearance-altering sequelae, impacts on gender development, and fertility—on a person's quality of life and well-being. The review concludes with suggestions for CAH healthcare delivery to optimize psychological outcomes. This perspective offers a systematic approach to understanding the variability in quality of life among individuals with CAH. It also enables the adaptation of effective clinical interventions from other chronic conditions to the unique circumstances of those affected by CAH.

Risks to Psychosocial Adaptation Associated With Chronic Pediatric Conditions

Cross-Cutting Factors (Table 1)

Challenges to parenting a child with a chronic condition

Individuals born with chronic medical conditions often face complex challenges that affect not only themselves but also their caregivers. The psychological impact of pediatric medical events on caregivers is recognized as a significant source of stress, contributing to distress and impaired functioning (13). Yet not all experiencing such stress develop psychiatric symptoms; some may even experience psychological benefits. This phenomenon is known as posttraumatic growth (27). Nevertheless, the possibility of positive changes can co-exist with risk factors. Parents of children with chronic conditions face many challenges, including increased physical and emotional demands due to frequent medical appointments, treatments, and hospital stays; these can contribute to physical and emotional strain. Financial burden from significant medical expenses can add further stress. Ongoing care needs can impose time constraints, leaving parents with less time for other children, partners, and themselves, potentially causing feelings of guilt and neglect. These demands can also lead to social isolation, as caregiving responsibilities limit opportunities for social interaction and accessing support networks (13, 28). Additionally, the needs of the child with the chronic condition can overshadow those of their siblings, leading to feelings of neglect or resentment within the family (29, 30).

Caregivers of children with chronic conditions frequently face chronic stress due to ongoing responsibilities of managing their child's health, which can lead to emotional distress. The need to balance caregiving with other roles can be overwhelming, leading to role strain and conflict (13). Additionally, caregivers often experience guilt and self-blame for their child's condition, which exacerbates their psychological distress (31). The lack of sufficient emotional and practical support from family, friends, and the healthcare system further intensifies feelings of isolation and distress (32).

Caregivers of children born with chronic medical conditions can perceive their child as vulnerable, leading to overprotectiveness (33). This overprotection, driven by fears about the child's health or their acceptance by others, can restrict the child's opportunities for independence and normal social interactions. Additionally, children may internalize their parents’ perceptions of vulnerability, negatively impacting their self-esteem and self-confidence. The child may also develop heightened anxiety and fear about their condition and abilities, mirroring their parents' concerns (14).

Problems of psychosocial adaptation

Youth with chronic medical conditions often face unique challenges that significantly impact their quality of life. Threats to body image and self-esteem are prevalent, as physical differences or limitations can lead to feelings of inadequacy and self-consciousness (16). These issues can also strain peer relationships, making it difficult for affected youth to form and maintain friendships and romantic relationships (17-19). Consequently, those with chronic medical conditions can exhibit increased psychological symptomatology, such as anxiety and depression, compared to their healthy peers (20, 21).

Academic and occupational challenges

Individuals born with chronic medical conditions can encounter significant educational and vocational challenges that impact their long-term success and fulfillment. In the educational realm, they may face difficulties related to absences due to medical appointments or hospitalizations, which can result in gaps in learning and academic performance (22). Physical and/or cognitive limitations can also necessitate specialized educational support and accommodations, which are not always adequately provided (23). These academic challenges often extend into vocational pursuits, where individuals might struggle with securing and maintaining employment that accommodates their medical needs. The potential for discrimination and stigmatization in the workplace can further hinder their career advancement. Consequently, individuals may experience limited job opportunities and reduced earning potential, highlighting the need for inclusive policies and supportive measures in both educational and professional settings (24).

Healthcare management challenges

In addition to the regular burdens of clinic visits and adherence to sometimes complex and changing treatment regimens, emergency room visits and hospitalizations can add an additional load for those with chronic medical conditions and their families (13, 23). An example of changing regimens involves transition (34). Transition has been defined as the “purposeful, planned movement of adolescents and young adults with chronic physical and medical conditions from child-centered to adult-oriented health-care systems” (35). Transition encompasses the medical needs of young adults as well as attention to the educational, professional, and psychosocial aspects of their lives. This period is especially difficult for adolescents with chronic diseases. One study of young adults with type 1 diabetes reported that up to 40% of patients lose their connection to specialized health care services (25).

Risks to Psychosocial Adaptation Associated With CAH: Specific Factors (Table 2)

Growth and appearance-altering consequences

Achieving stable metabolic control in CAH can be difficult. Overtreatment can result in adverse effects, such as obesity, which can affect self-esteem and social interactions due to societal biases and the health implications of excess weight (36, 37). Excess glucocorticoids can also result in growth suppression and adult short stature (40, 62). In contrast, consequences of undertreatment include precocious puberty (63) which may cause psychological distress and social challenges due to the mismatch between physical and emotional development (41). Both males and females with CAH are likely to experience more genital exams than children with other chronic medical conditions (64). Genital examinations are used to detect precocious pubarche and monitor pubertal development (1). These appearing-altering features of CAH can individually, or in combination, significantly impact psychosocial adaptation.

Potential threats to neurocognitive function and emotional reactivity

CAH and its management, particularly prenatal dexamethasone treatment and episodes of hyponatremia or hypoglycemia, may pose neurocognitive risks (63). Prenatal dexamethasone has been employed to prevent virilization in female fetuses (65). However, because treatment is initiated before the genotype of the fetus is known, 7 out of 8 treated fetuses will be subjected to high doses of dexamethasone during early embryogenesis without any benefit. There have been reports suggesting that treatment is associated with subtle impairments in cognitive function and increased risks of anxiety in both affected CAH fetuses and unaffected siblings (66, 67). Notwithstanding limitations of this literature, a systematic review and meta-analysis suggests that prenatal dexamethasone can reduce virilization without negative effects on newborn physical development, cognitive function, behavioral adaptation, and temperament (68). A different risk factor for neurocognitive function is hyponatremic episodes, which can occur in the salt-wasting form of CAH. There are reports that salt-wasting crises are associated with cognitive deficits (44). Similarly, life-threatening hypoglycemia, caused by adrenaline deficiency due to adrenomedullary dysfunction in CAH, can lead to seizures and permanent neurological deficits (45).

Reproductive function and parenting interest

The factors contributing to lower birth rates in CAH are complex. In female individuals, optimization of both glucocorticoid and mineralocorticoid therapy is important. Nevertheless, it is a common finding that a major cause for low birth rates is that women with CAH are less interested in parenthood (43, 46). In male individuals with CAH, a threat to fertility is development of testicular adrenal rest tumors, benign tumors that cause mechanical obstruction of the seminiferous tubules causing azoospermia (47). Likewise, female individuals with CAH can develop adrenal rest tumors in the ovaries and uterine ligaments (40). Psychological consequences of CAH on reproduction will depend on an interaction between whether the condition affects reproductive capacity and the person's desires to become a biological parent.

Masculinization in girls and women

Threats to positive quality of life and well-being related to the overproduction of androgens during fetal development and inadequate postnatal suppression of adrenal androgens emerge for girls and women with CAH. Due to overlap in lived experience and phenotype, girls with CAH are often included under the umbrella term differences of sex development (DSD). The term DSD is used to refer to congenital conditions affecting the development of the chromosomal, gonadal, or anatomic sex (69). Unique consideration around the impacts to sex, gender, and medical experience are required to fully address psychosocial management for girls and women with CAH.

Genital appearance and function

Girls and women with CAH can experience self- or other-imposed (eg, parental, societal, etc.) desire to “fix” the genitals, stigma, and accompanying shame and secrecy (48). Surgical interventions on the external genitalia, such as clitoral reduction, that are pursued to align genital appearance and function with societal norms are often driven by parental concerns, as well as the individual's own desires regarding their appearance and the expectation of satisfying sexual function (49, 70). Anticipated stigma related to perceived or actual atypical genital appearance, characterized by the fear of judgment and discrimination, leads to heightened anxiety and social withdrawal; experienced stigma encountered in healthcare settings, peer interactions, and intimate relationships can elicit feelings of otherness and psychological distress (42). Although not affecting appearance, excess prenatal androgens present during embryogenesis can also result in development of a urogenital sinus, which is a confluence of the urethra and vagina, resulting in a single external opening. Surgery (vaginoplasty) may be required to establish a functional vaginal opening that enables normal urinary function, menstrual flow, and potential future penetrative intercourse. Establishing and maintaining an unobstructed introitus commonly requires vaginal dilation, exerting an additional psychological burden on young women (50).

Repeated genital examinations and medical photography

In addition to examinations for the purposes of monitoring pubertal progression in both boys and girls, genital examinations are more frequently performed in girls with CAH to prepare for or evaluate the outcome of genital surgery. Patient reactions to repeated genital examinations and medical photography potentially threaten mental health and well-being (51, 52, 71).

Hirsutism and voice changes

Elevated androgens in females can also result in hirsutism and deepening of the voice (53, 54). These can be experienced as distressing and add psychosocial burden, with compelling evidence that hirsutism significantly impairs the quality of life for women with this condition (55). Research indicates that women with hirsutism experience anxiety and depression at levels higher than those seen in patients with diseases like cancer (72).

Psychosexual development

Psychosexual differentiation includes several key aspects: gender identity (self-identification as girl/woman, boy/man, or nonbinary), gender role (culturally and temporally specific behaviors and attitudes that vary between males and females), sexual function, and sexual orientation (sexual attraction to individuals of the same sex [homosexual], the opposite sex [heterosexual], both sexes [bisexual], or no sexual attraction to others [asexual]).

Rearing as a boy in 46,XX CAH

An important qualification related to females (46,XX) with CAH concerns those born with completely virilized genitalia. Long-term outcome data for those individuals reared as boys from birth and followed into adulthood suggest that a male gender assignment can be compatible with a stable gender identity throughout life, and obviating the potential for extensive external and internal genital surgery that carry risks for cosmesis and sexual function (57). Of course, the option of rearing in the male gender is conditional on a supportive social and cultural environment and the acceptability of the balance between the perceived benefits and drawbacks associated with this option.

Gender development

As noted earlier, females with CAH have been studied as natural experiments for testing hormonal hypotheses related to the influence of early prenatal sex hormone exposure on behaviors exhibiting sex-related variability (2). Prenatal androgen exposure has repeatedly and rigorously been demonstrated to influence the gender development of females with CAH throughout their lives (73). Significant effects have been shown for interests and participation in gendered activities, moderate effects on spatial abilities, and relatively small or negligible effects on gender identity, gender-related cognitions, and interactions with gendered peers (5, 56). A masculine gender role profile is not a risk factor for poorer psychological adaptation unless it triggers negative reactions in the person's social environment, or the person misconstrues this pattern of behavior and interests as a reflection of their gender identity (74). It is a critical aspect of psychoeducational counseling to inform the patient and their caregivers about the distinctions between gender role and both gender identity and sexual orientation.

Sexual orientation

Sexual orientation is a multidimensional construct comprising 3 elements: attraction, behavior, and identity. In a relatively recent systematic review of sexual orientation of females and males with CAH, females self-identify as heterosexual in the range of 40% to 100%. The percentages identifying as homosexual (3%-20%) or bisexual (3%-37%) are considerably lower (75). In contrast, none of the males self-identified as non-heterosexual (75). Studies have also suggested that the likelihood of a non-heterosexual orientation is higher in females with the salt-wasting form of CAH than within the milder simple virilizing subgroup (76). Historically, these findings have been attributed to the action of prenatal androgens on brain development. However, several other factors may have contributed to the development of a non-heterosexual orientation, including social responses to atypical genitalia, effects of prenatal androgens on gendered activity and interests, and the person's emerging self- and body image (77). “Sexual fluidity” describes the ability of an individual's sexual responsiveness to vary based on the situation, enabling some individuals to feel attraction to either men or women depending on the context, regardless of their predominant sexual orientation (78). A longitudinal study on sexual orientation, spanning several decades, demonstrated that women's sexual orientation is more fluid than previously thought. Many women experienced changes in their sexual attractions, behaviors, and identities over time, including shifts between heterosexual, bisexual, and lesbian orientations (79). These findings align with the observed lack of category-specificity in women's genital arousal, that is, women show equal sexual arousal to both male and female audiovisual stimuli (80, 81), whereas men's genital sexual arousal is specific to the category of person to whom they are most attracted (82). It is crucial to emphasize that a person's sexual orientation is not a risk factor for mental health morbidity—“minority stress” notwithstanding (83)—and should not be seen as a proxy for gender identity, just as gender role (behaviors society expects based on their gender) should not be mistaken for gender identity.

Controversy over surgical management

Evidence of controversy over genital surgery in females with CAH (and genital or gonadal surgery for females or males with any of the medical conditions categorized as DSD) exists in the medical literature, social media, human rights organization statements, courts of law, and government legislatures (58). There is a growing outcry against, and a call for a moratorium on, elective genital and gonadal surgeries performed without the individual's informed consent (59); that is, during childhood, before a person is able to provide fully informed legal consent. The rationale for elective genital surgery in girls with CAH is based on the belief that “normalizing” appearance and function will prevent physical and psychosocial issues, which are the intended goals and expected outcomes of such surgeries. However, several reports exist of adult women with CAH who underwent genital (internal and external) reconstructive surgery during childhood and later experienced issues such as reduced clitoral sensitivity, difficulties with vaginal penetration, and infrequent intercourse. In one systematic review, only 48% of these women reported comfortable intercourse (60). Notwithstanding these findings, follow-up studies of adult women who underwent these procedures show that a substantial majority do not regret having had the surgery performed before they were old enough to give meaningful assent (42, 60). Because genital surgery during infancy or early childhood has been the standard of care since its introduction, there are currently no long-term studies of individuals—adolescence through young adulthood and beyond—who did not undergo early surgery.

Opportunities for Optimizing Psychological Outcomes (Fig. 1)

Model of care: interdisciplinary team care

Individuals with CAH may receive care from individual providers (typically an endocrinologist) or specialty teams for CAH; those for whom the condition affects genital appearance or function (typically girls and women), may also be seen in specialty clinics for DSD (84). Increasingly, team-based care involving multiple disciplines is emphasized in health services research, education, and policy (85). Indeed, it has repeatedly been recommended that optimal care in CAH involves comprehensive and integrated clinical services including multiple specialties (1, 84, 86, 87). Advantages of team care that includes mental health professionals is demonstrated in research showing that specialized psychosocial support for individuals with DSD leads to better outcomes for both physical and psychosocial well-being (88).

Specialty care teams may vary in levels of provider collaboration, using multidisciplinary, interdisciplinary, or transdisciplinary models. The terms are often used interchangeably; however, there are important distinctions: multidisciplinary care draws on knowledge from different disciplines but each stays within their boundaries; interdisciplinary care analyzes, synthesizes, and harmonizes links between disciplines into a coordinated and coherent whole; transdisciplinary care integrates the natural, social, and health sciences in a humanities context (see (85) for a detailed discussion). Recommended specialists in CAH and DSD include endocrinology, urology (and/or surgery), behavioral health, gynecology, genetics, neonatology, social work, ethics, and nursing (69, 89). There is broad consensus that centralized dedicated services, integrating medical and psychosocial care, and focusing on continuity of care across all stages of life, should be the primary approach (88).

Psychosocial assessment

Routine screening of patient (and family) risk factors summarized in Tables 1 and 2 is indicated in the context of ongoing clinical care. Assessments, using validated self-reported and, in pediatric care, standardized caregiver self- and proxy-report questionnaires combined with clinical interviews, offer a systematic approach to identifying key factors and risks affecting positive outcomes, enabling the provision of appropriate resources, supports, and counseling (88). Of relevance in this area is the need for healthcare providers, patients, and families to understand several aspects of psychological development, attend to culturally informed practices, and assess for the effects of stigma on decision making.

As previously mentioned, it needs to be emphasized that masculine gender role behavior or emergence of a non-heterosexual orientation in girls or women with CAH should not be considered targets for clinical intervention. These interests and predispositions are healthy and normal, even if prenatal androgen exposure has played some role in their emergence. Parents should be counseled to avoid viewing their daughter's gender development as pathologic lest such perceptions be experienced by their daughters as a rejection, contributing to a negative self-image and self-acceptance. Psychosexual development monitoring should emphasize the patient's experience by addressing patient complaints and needs within their family and sociocultural context. Furthermore, even though the list of factors potentially threatening the quality of life of individuals with CAH may differ between females and males, both will face challenges associated with managing a congenital and chronic illness (Table 1).

Cultural/religious sensitivity

The sociocultural and religious contexts in which children grow and develop into adults may differ from that of those who are involved in their care, including caregivers, healthcare providers, and the research studies used to inform healthcare practices (92). Specific assessment and sensitivity to patient and family cultural and religious beliefs will aid healthcare providers in promoting positive, relevant experiences for patients and families (93-95).

An example of the intersection of cultural and religious beliefs and healthcare involves gender—particularly for those with 46,XX CAH experiencing masculinizing features. Cultural beliefs are increasingly shifting in Western societies around gender identity, with more individuals questioning their gender identity and identifying as nonbinary (88). This contrasts with Islamic perspectives of gender-related issues in the management of conditions including CAH in which published reports demonstrate increased rates of assignment to the male gender regardless of karyotype, gonadal makeup, and fertility potential, because the male gender has a dominant role in society and is thus the preferred sex (93). Perceiving masculinizing physical features in girls and women with CAH as stigmatizing or otherwise problematic given one's cultural background may result in clinical management decisions that appear to quickly “fix” a problem while limiting thoughtful consideration of alternatives and cons associated with the quick fix. Therefore, it is crucial to systematically assess patient and family needs within the context of the culture in which they live (88, 93).

Shared decision making

For decisions with more than one reasonable option, shared decision making (SDM) is encouraged. SDM involves 3 key elements: providers and patients (or their proxies) must recognize that a decision is needed; all parties must understand the best evidence on the harms and benefits of all treatment options, including the option of no intervention; and the values and preferences of the patient (and the child's parents) must be considered (99). In the pediatric sphere, the American Medical Association Council on Ethical and Judicial Affairs started their thorough analysis of the issue of elective genital surgery in children with the understanding that society expects parents to make decisions in the best interests of their child. This right and responsibility arises from the fact that the family typically serves as the child's primary, and often only, source of support and care. Therefore, the needs and interests of the family are pertinent to treatment decisions (111).

Decision aids

Decision aids are tools that support SDM by helping people become involved in decision making through focusing on an explicit decision, providing information about options and outcomes, and clarifying personal values (100). Decision aids do not advise people to choose one option over others, nor are they meant to replace practitioner consultation. To this end, a suite of patient decision aids to promote shared decision making in CAH (and DSD) has been created, including one focusing on genetic testing and another on genital surgery (101).

Peer support

Given the challenges associated with managing a chronic illness that can lead to social isolation and diminished support networks, peer support becomes particularly important. Peer support involves people drawing on their own experiences to provide information and emotional support. It can be provided through patient/parent-led support groups, clinic-based peer support workers, and informal contacts. Peer support has the potential to deliver emotional support, facilitate exchanges and understanding of information, and increase confidence in treatment decisions. Also, peers can provide information in areas that are unknown to or not prioritized by healthcare professionals (88). Provider recommendations to connect with peer support can also be extremely useful; careful consideration of where to direct patients is warranted (88, 102).

Support and accommodations: healthcare, education, vocation

Given disruption to patient and parent routines, including school and occupational attendance and advancement, clinicians should provide anticipatory guidance around issues of planning for school, school trips, transitions related to starting college, vocational training, employment, and other major life events—focusing on predictable stressors and reactions to stressors (eg, weight gain, fatigue, poor sleep, and emotional changes). Additionally, the clinic environment itself should be designed with patient- and family-centered psychosocial, educational, and vocational needs in mind. For example, making efforts to schedule patients for visits with multiple health care providers on the same day to accommodate families coming from long distances and to minimize loss of time from school or work. Given the public's general lack of knowledge about CAH and its care, including the need for regular medication, situations that are likely to prompt adrenal crises (eg, severe illness or injury occurring at school or work) and the need for emergent care, patients and families should be provided with written materials that enable them to be effective advocates for themselves or their children in these settings (84).

In the United States, parents should be informed that accommodations and modifications can be obtained under Section 504 of the Rehabilitation Act of 1973 in the public school system (103). Both children and adults may also benefit from accommodations obtained under the Americans with Disabilities Act of 1990 (104). Similar legislation can be found internationally (eg, (105-108)). When needed, clinicians should work with patients and families to identify what accommodations would be helpful and provide support for the process.

Sexual health counseling

Given the potential for CAH to have serious negative impact on sexual and reproductive health, as well as relationship issues for both men and women, assessment of sexual health and counseling to address identified issues is important (112). Issues related to sexual health may include low sexual desire, sexual dysfunction, fertility/infertility, sexual orientation concerns, gender issues, relationship issues, sociocultural or religious factors and expectations, and the sequelae of past or current medical or surgical intervention (84, 112).

Transition readiness and handoff

The importance of providing organized transition from pediatric to adult healthcare has been long recognized across a range of chronic health conditions, including CAH (113). Research demonstrates that a seamless transfer is essential for adolescents with CAH; however, this goal is not always recognized (98). The transition of a child with CAH to care from an internal medicine endocrinologist means a fundamental shift in treatment goals, parent-patient relationships, and approach to care delivery (84). This presents further challenges given the lack of interdisciplinary teams that specialize in the care of adult patients with DSD (98).

Success requires continuous support from both pediatric and adult providers, adequate funding, and condition-specific education tools for the adolescent and young adult age group (98, 109, 110, 113). Tools such as a transition navigator developed and used in the context of type 1 diabetes may be helpful in this area. The transition navigator, called “The Maestro Project,” used several methods of service delivery including a comprehensive website, a bimonthly newsletter, a monthly, casual evening drop-in group, and educational events designed to encourage socialization with peers and to facilitate relationships with diabetes educators, endocrinologists, researchers, and other service providers (25).

Translational research

Finally, to inform advancement in clinical care, registry-based clinical research should be conducted (84, 88, 96, 97). Registries allow for detection of geographical and historical trends and analysis of outcomes; they can provide tools for benchmarking across centers (88). Multicenter studies facilitate accumulation of data with adequate statistical power to discriminate among outcomes for affected individuals and their families. In CAH, specific benefits would derive from interdisciplinary experts investigating research topics such as improved therapeutic options with both physical and psychosocial outcomes in mind, optimizing transition, and evaluating comorbid conditions including obesity, insulin resistance, and osteoporosis (84).

Conclusion

Routine psychosocial screening of patient and family risk and resilience factors is recommended to identify areas of concern. Such screening should include both cross-cutting and condition-specific factors. This, in turn, provides a pathway forward for providing quality interdisciplinary patient-centered care.

Funding

Portions of this work were supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development under award numbers R01HD093450 and R01HD086583.

Supplement Sponsorship

This article appears as part of the supplement “Challenges and Opportunities in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Throughout the Lifetime,” sponsored by Neurocrine Biosciences, Inc.

Disclosures

None.

Data Availability

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

References

Abbreviations

 
• CAH

  congenital adrenal hyperplasia

 
• DSD

  differences of sex development

 
• SDM

  shared decision making