Disorders of sexual differentiation: ethical considerations surrounding early cosmetic genital surgery.
Although a fairly rare occurrence, nurses who provide care to individuals across the lifespan may face this challenge at some point during their career. What happens when the sex of a patient is not straightforward based on the appearance of external genitalia? For a nurse midwife, this dilemma may arise during a home birth. When examining a newborn for the first time, a neonatal nurse may recognize genitalia incongruent with the assigned sex. Pediatric, surgical, genetic, and endocrinology nurses may encounter a child with indeterminate genitalia during a well-child visit or consultation. A child or adolescent may present to a school nurse or mental health practitioner with questions about gender identity or symptoms of gender dysphoria. And care does not end in childhood. There are ongoing health concerns surrounding sex assignment, gender identity, and gender reassignment; and the medical, surgical, and mental health considerations for these individuals and their families are life-long. No nurse is immune.
Disorders of Sexual Differentiation
Although individuals with gender differences present across the lifespan, this discussion will encompass early genital reconstructive surgery for a select group of disorders after determining sex assignment. Examining disorders of sexual ambiguity and the treatment history from the 1950s to present will help set the stage for current standards of care and surrounding ethical dilemmas. Assigning gender based on blood chromosomes, degree of prenatal virilization, and/or physical appearance of the genitalia are not without potential for error. As such, questions regarding the application of moral principles in ethical decision-making and current practice have recently been raised. Should ambiguous genitalia be surgically "normalized" during infancy? Or should providers recognize genital surgery is not a medical emergency and defer anatomical and cosmetic alteration until an age when 1) the child's gender identity is well established, and 2) the child is able to consent, assent, or reject surgical treatment? The advantages of each of these approaches will be discussed to shed light on this less-than-straightforward standard of care.
History of Terminology
Since the mid-20th century, having atypical biological sex has been described by terms, including hermaphrodite, ambiguous genitalia, intersex, and most recently (yet still controversial), disorders of sex differentiation or disorders of sex development (DSD). Intended to be more inclusive, DSD describes a broader range of problems, including differences in sexual differentiation, sex chromosome abnormalities, and embryonic anomalies of the genital or reproductive tracts. Although each may imply subtle differences and interpretation among experts, past and present literature often applied the terms ambiguous genitalia, inter-sex, and DSD interchangeably.
The true incidence rate for individuals with DSD is unknown. Depending on the source and inclusivity of disorders, it is estimated to affect approximately 1:4500 to 1:5000 live births (Warne & Raza, 2008). Some individuals with DSD, however, may present with undervirilization or overvirilization of genitalia and not be recognized until later childhood or even adulthood. With the inclusion of later-onset conditions, population estimates for DSD range from 2% to as high as 10% (Blackless et al., 2000; Intersex Society of North America [ISNA], n.d.).
Spectrum of Medical Conditions that Comprise DSD
Disorders where external genitalia are phenotypically incongruent with genetic sex can be categorized into 3 main groups: 1) conditions associated with prenatal (and possibly postnatal) virilization of 46, XX (genetic female) individuals, 2) disorders associated with undervirilization of 46,XY (genetic male) individuals, and 3) conditions associated with gonadal dysgenesis. The most common diagnoses are congenital adrenal hyperplasia (CAH), androgen insensitivity syndrome, and mixed gonadal dysgenesis, which account for 32% to 47% of children with DSD (Hewitt & Warne, 2009).
More specifically, examples of DSD include 46,XX individuals with CAH (females with genital masculinization); 46,XY androgen insensitivity syndrome (males with genital feminization and inability to respond to testosterone); and 46,XY 5-alphareductase deficiency (males with testes and male-typical testosterone levels with genital feminization that masculinizes during puberty often with an inadequate phallus). These conditions will be the primary focus of this discussion.
Although not central to this discussion, other conditions included by the phrase DSD deserve mention. These disorders include ovotesticular DSD, persistent Mullerian duct syndrome, gonadal dysgenesis (internal reproductive structure is inconsistent with external genital appearance), chromosomal abnormalities (such as Turner syndrome [45,XO], Klinefelter syndrome [47,XXY], and 46,XY/ 45,XO mosaicism), and single gene mutations related to testicular development, such as SRY, ST1, SF1 (the sex-determining gene on the Y chromosome) (Mastrandrea et al., 2011; Warne & Raza, 2008). Lastly, other syndromes and conditions with genital abnormalities, such as cloacal exstrophy of the bladder (multi-organ pelvic defect resulting in severe inadequacy or absence of genitalia), perineoscrotal hypospadias, micropenis, penile agenesis (aphallia), vaginal agenesis, and penile ablation (loss of penis from traumatic injury), are blanketed by the phrase DSD. See Table 1 and Figures 1, 2, and 3 for an overview of these conditions, description of their cause, appearance of genitalia, and surgical treatment options.
Incongruent Phenotype-Genotype: The Dilemma
Individuals with genetic and congenital DSD present with varying degrees of genital ambiguity, and they require individualized assessment and care. Sexual ambiguity and its personal, emotional, cultural, social, and even legal influences are a discussion for another time, but remain relevant and pertinent to this ethical dilemma. Gender identity or how one self-identifies as "male" or "female" is extremely pertinent. But gender identity encompasses more than sex. Regardless of the underlying cause, when gaining a better understanding of DSD genotype and phenotype, it refers to how one feels and expresses gender and gender roles. Superficially, we contemplate how it influences most individuals, but gender identity is far reaching and envelopes cultural, social, and legal influences at the global level.
"Typical" Gender Identity Development
During infancy and toddlerhood, children not only experience rapid physical growth and development, but it is also believed to be when most individuals establish gender identity. Gender identity describes something more complicated than physical characteristics and outward behaviors. It is not sexual identity or sexual orientation. Rather, gender identity refers to one's personal self-identification, which may be the same or different than the sex assigned at birth and evolves through childhood and adolescence. The differentiation between sex and gender is important in recognizing that biology is not destiny. Gender identity is the interrelationship between those traits and one's personal sense of self and self-identification/self-representation as male, female, both, or neither; it does not always fit within gender stereotypes. Most individuals develop gender identity that coincides with their genotype. During the second year of life, most children gravitate to gender-specific toys and games, and by 3 years of age, demonstrate gender awareness that classifies them as either a "boy" or "girl" (Berenbaum, 2006; Meyer-Bahlburg, 2011).
Western culture and its social constructs view gender as a binary concept with two gender identity options: male or female. But gender extends beyond biology (anatomic or genetic sex), and it is becoming clearer that gender is a spectrum with no clear dividing line. If gender identity can vary among individuals with "typical" genotype and phenotype, it can have potentially devastating effects for individuals with DSD. Some children and adolescents may present with markedly gender-atypical behavior that may call into question the gender to which they belong. It can lead to confusion and even gender dysphoria with a desire to change gender. It cannot be overemphasized that gender identity is not determined by any single factor. The best predictors of gender identity are sex of rearing combined with prenatal (and perhaps postnatal) androgen exposure. In addition, there appears to be some flexibility of gender identity later in life as demonstrated by individuals who are transsexual. Although gender identity develops early, it is not solidified until adulthood. When considering gender identity among individuals with DSD, there is considerable unexplained variability (Berenbaum, 2006).
History of Care Guidelines For Individuals with DSD
Prior to the mid-20th century, medical management for DSD was guided by the belief that an individual's "true sex" was revealed by examination of the internal (gonadal) anatomy. In the mid-1950s, John Money and his colleagues at Johns Hopkins Hospital and School of Medicine observed adults with hermaphroditism and determined that regardless of genetic (biologic) sex, gender identity was consistent with sex of rearing (Money, Hampson, & Hampson, 1955). This premise was furthered by Milton Diamond (1965), who described gender identity and differentiation as malleable. Diamond purported newborns were psychosexually neutral, and gender development was achieved though environmental interactions in concert with the appearance of genitalia. In fact, consistent with the dominant paternalistic approach to care at the time, many physicians withheld the biological "sex" of the infants with DSD from parents, and if aware, parents were instructed never to disclose this information to their children.
Building upon this work, in 1973 Money replaced the "true sex policy" with the "optimal gender policy." Money and his colleagues affirmed gender identity as fluid until about 18 months of age and asserted delaying gender assignment beyond two years of life would result in increasing adjustment problems. Further, Money concluded gender-typical genitalia were necessary to facilitate "normal" gender identity and psychological health, and early sex assignment followed by "normalizing" genital surgery were essential for gender outcome to be "successful" (Meyer-Bahlburg, 1998). Continuing to reinforce these recommendations, Suzanne Kessler (1990) concluded that to avoid parental ambiguity surrounding gender and ensure consistent sex of rearing, early genital surgery must be performed to match the assigned sex.
These and other researchers, physicians, and scientists have shaped the medical and surgical management of individuals with DSD for the last half-century. Treatment during infancy has focused on what was believed to be in the best interests of the child and family: creating "normalcy" while minimizing potential social ostracism and psychological trauma for both the child and parents. This has been achieved through emergent sex assignment and early surgical alteration of the genitalia to "affirm" that assigned sex. But is this the best and most ethical approach?
Evolution of Clinical Treatment Guidelines
Since the early 1990s, interest has heightened around the treatment guidelines for DSD and other congenital conditions of external genitalia. Although prenatal and postnatal biological factors and social influences play a major role in gender outcome and identity, determining "true sex" is challenging. Clinicians make reasonable recommendations based on assumptions concerning determinants of gender and significance of outcomes, such as potential for gender dysphoria, possible future gender change, fertility, sexual functioning, and treatment options available at the time whether by surgical techniques and/or hormone replacement therapy. To relieve parental distress about atypical genitals, guidelines recommend surgical intervention during the first year of life. Surgery includes early clitoral reduction and vaginoplasty in cases of severe virilization, and removal of testis for genetically male infants who will be raised female (see Figure 4).
The Voice of the Intersex Community
Few debate the need for emergent sex assignment and parent support after the birth of an infant with ambiguous genitalia. However, the paternalistic approach toward early, cosmetic genital surgery for non-consenting infants based on the provider's "best (educated) guess" in determining sex has recently come into question. Founded in 1993, the voice of the intersex community was finally heard with the formation of the Intersex Society of North America (ISNA). Devoted to eliminating shame and secrecy for individuals with genitalia who do not conform to the classic "male"/"female" stereotype, INSA publicized their distress involving the treatment and care of individuals with intersex conditions. Since its inception, ISNA has rejected the traditionalist approach to care founded by John Money in the 1950s, and among other things, campaigned to delay gender-confirming genital surgery for infants with ambiguous genitalia (unless life-threatening) until the child is able to participate in collaborative decision-making (INSA, n.d.).
The message of ISNA, however, was met with resistance by mainstream care providers. Rather than being perceived as a voice for the intersex community, ISNA was regarded as sensationalism by a small number of disenfranchised persons experiencing extreme gender dysphoria. Unable to gain momentum and respect from the medical community, ISNA dissolved in 2007 (INSA, n.d.). Passionate in moving the mission and positions of the organization forward, leaders convened a national group of health care providers and advocacy professionals to establish a new organization, Accord Alliance. This organization created a vision to promote integrated comprehensive approaches to care and enhance the health and well being of persons with DSD and their families (Accord Alliance, n.d.). The primary mission of the group is to promote education and raise awareness of the controversy surrounding early genital surgery for individuals with ambiguous genitalia.
The Ethical Dilemma
Perhaps it seems naive to question a series of policies and consensus statements that have been in effect with few revisions since the work originated by John Money and his colleagues at Johns Hopkins more than a half century ago. Although valuable information has been gained over the years; evidence in support of this practice has been potentially "swayed." First, given the practice of non-disclosure in the past, there are individuals who may be unaware they are intersexed, and as such, have not contributed a voice to the discussion. Fearing social stigma and humiliation, there may be a cohort too embanassed to come forward to discuss their acceptance or non-acceptance of past and present management and treatment outcomes. Lastly, there are likely individuals comfortable with early treatment decisions made for them, and as such, have no reason to come forward or provide comment.
The passion for change for individuals with DSD that dispute performing early cosmetic genital surgery for intersex infants is heartfelt. The controversies encompassing this dilemma are extremely emotional and cannot be simplified within the prose of one article. This discussion, therefore, will only call focus on whether parents have the right to provide informed consent to cosmetically alter the sexual organs of their non-consenting infants for the small number of DSD for which there is the possibility of future gender ambiguity. In other words, should non-life-threatening surgery during infancy be performed or deferred until the child is developmentally mature enough to participate in decision-making?
Limits and Context Of the Discussion
Several of the DSD previously outlined are not affected by the need for early genital surgery. This discussion, therefore, will not address the discord regarding early surgical procedures, such as male circumcision and perineoscrotal hypospadias repair. Although cosmetic genital alterations, these surgeries do not alter the genetic or recommended genetic sex of the child, and therefore, do not call into question the potential future "gender" discrepancy as with other DSD. Although these surgical practices may be viewed as solely cosmetic and performed on non-consenting minors, these surgeries do not in and of themselves contribute to possible sex and gender incongruence in the future as do the conditions we will discuss. Further, the controversy of sex reassignment for a male infant born without a penis as a result of cloacal exstrophy of the bladder or penile ablation will not be addressed. These decisions are fraught with dispute pertaining to sex reassignment based solely on the ability to perform sexually and are not considered "true intersex" conditions. Third, the discussion will not question the need for surgical removal of intra-abdominal testis (especially if dysplastic) and/or streak gonads for individuals with Ychromosomal material, such as those with partial androgen insensitivity syndrome at the time of diagnosis whether during infancy or early childhood. This surgery is not cosmetic, and because these markedly increase the risk of germ cell malignancy, it is difficult to argue against surgical removal, even at an early stage of life (Houk, Hughes, Ahmed, & Lee, 2006; Warne & Raza, 2008).
This article will, however, review the advantages of early and delayed genitoplasty and cosmetic genital alteration for infants with a subgroup of DSD, such as 46 XX newborns with CAH (virilized females), and 46,XY infants with androgen insensitivity syndrome and 5-alpha-reductase deficiency (feminized or undervirilized males). There are several questions that merit consideration during debate. Should clitoral reduction be performed during infancy for a female with virilization secondary to CAH? Should a male infant with 5alpha-reductase deficiency be assigned female gender because his undervirilized penis will never be "adequate?" If a genetically male infant assumes female gender incongruent with his genotype, should a vagina be created during infancy to confirm her female phenotype? Should the testis be removed to prevent further masculinization during puberty? To contemplate these questions, it is important to consider the moral principles upon which to provide the most ethical care.
Application of Moral Principles: "Informed" Consent
Although parents have the legal right to authorize medically necessary procedures for their infants, it is unclear whether they are best positioned to make decisions and provide informed consent for elective genitoplasty for their non-consenting infant with DSD. Because these surgeries are not medically necessary, and the infant cannot participate in the decision-making, the question remains: Should surgical genital alteration be delayed until the age of legal consent, or at least until the child can provide legal assent? When giving this full consideration, one must ponder three of the four moral principles originally developed by Beauchamp and Childress (2010) in the textbook Principles of Biomedical Ethics (see Table 2). These well-known principles provide a standard theoretical framework from which ethical situations in health care are analyzed. The principles of autonomy, beneficence, and nonmaleficence will help guide a better understanding of the complexity of this ethical dilemma.
Although Beauchamp and Childress (2010) outline four equally important moral principles, they are not hierarchical in nature. When considering this moral debate, however, the principle of autonomy moves to the forefront. Autonomy refers to personal freedom and the right to make one's own, individual choice. It encompasses personal self-rule or self-governance, and in doing so, ensures freedom from the controlling influences of others that may prevent free choice, including the right to refuse (Beauchamp, Walters, Kahn, & Mastroianni, 2008). Although it is difficult to ignore the autonomy of health care providers themselves, the autonomy of the parents and infant prevail. When contemplating autonomy as the ability for rational individuals to exercise self-determination, one must accept persons are uniquely qualified to make decisions regarding their own best interests.
Autonomy is not an absolute or unconditional value. Autonomy entails voluntary decision-making and equates to freedom. To deny an individual autonomy means others fail to recognize and respect the inherent value of that individual, and as such, invalidate their self-worth. To respect autonomy is to recognize each individual as entitled to determine his or her own destiny. But when applying the moral principle of autonomy to these circumstances, are the best interests of the parents, infant, or family unit the priority?
Parental autonomy. Even the worst of parents may attempt to make the most loving and caring decisions for their children. When presented with a situation where the genitalia of their son or daughter (phenotype) do not match the genetic make-up (genotype), parents do not want to make an impulsive decision regarding gender assignment or reassignment. To avoid potential error, decisions are made with careful analysis and thoughtful consideration. As previously noted, however, researchers and providers (and perhaps also parents) have perpetuated an understanding that early genital surgery is "best" for the infant, and providers respect parental autonomy in decision-making by performing surgery.
Infant and child autonomy. Practitioners and parents may fail to recognize the autonomy of the infant with DSD. Although it may be challenging to consider the future autonomy of a newborn, it cannot be ignored. Autonomy is closely bound with informed consent and is of utmost priority when considering genital surgical revision for infants with DSD. Although the easiest and most obvious autonomy to respect at the time of diagnosis is that of the parents, the future autonomy and autonomous decisions of the infant (soon to be child, adolescent, and adult) require careful consideration. Providers tend to gravitate to paternalistic decision-making, and parents who are confused, stressed, and anxious, often usurp these decisions to the "professionals." From the outside, it appears as though early genital surgery is accepted because paternalistic professionals (albeit with the informed consent of parents) make treatment decisions for them. But are these decisions meeting the autonomous needs of the infant?
Autonomy, culture, and religion. When considering the autonomous needs of families of infants with DSD, parental cultural, religious beliefs, and societal pressures influence parental decision-making. Sex assignment and surgical decisions made by parents are based on their beliefs and background. This may be less influential in Western countries, but in developing countries and some Middle and Far Eastern cultures and religions, sex or gender may preclude marriage, employment prospects, and economic independence. In some cultures, sons are more highly valued than daughters, and are expected to assume responsibility for the spiritual and physical welfare of their parents. Therefore, male gender may be "chosen" by parents as the preferred sex even if it is against medical advice. Additionally, some cultures and religions may view an infertile woman as burden to her family and a social outcast, and as such, select male gender against medical advice.
The influence of cultural backgrounds and religious beliefs are important to weigh because they influence parental decision-making and autonomy with regard to sex determination and early genital surgery (Warne & Raza, 2008). Providers must carefully weigh these influences and provide guidance and direction as indicated to maintain autonomy for those involved while addressing the principles of beneficence and nonmaleficence.
Beneficence and Nonmaleficence
Although the moral principle of autonomy is of utmost concern, one cannot ignore the interconnectedness of beneficence and nonmaleficence as well. Beneficence is the principle of acting with the best interest of another in mind. Closely tied to beneficence is the principle of nonmaleficence, which is most often described as primum no nocere: "Above all, do no harm." Nonmaleficence also refers to an obligation to come to the assistance of others in need whether that be for treatment or to prevent injury (Beauchamp et al., 2008). The principles of beneficence and nonmaleficence impose social duties. In other words, one must act in ways that advance the welfare of others while avoiding needless harm or injury. Consequently, while respecting the autonomy of the infant and parents, consideration regarding sex assignment and whether or not to perform early cosmetic genital surgery leave open the possibility for both benefit and harm. Informed consent and treatment options must be weighed carefully and collaborative decisions made with full disclosure and evidence for the outcome to produce the greatest good with the least amount of harm.
Early Cosmetic Genital Surgery: The Advantages And Disadvantages
When applying the moral principles of autonomy, beneficence, and nonmaleficence to the care provided for infants with DSD, several questions come to mind. Is there anything "emergent" about performing cosmetic genital surgery during infancy? What are advantages and disadvantages to waiting until the child can self-identify as male, female, or in between; and self-determine how "he/she" would (or would not) like to have their genitalia surgically altered? When contemplating these and other questions, there are options to be weighed. Each is individually relevant, and decision-making requires careful consideration.
Advantages of Performing Early Cosmetic Genital Surgery
Several rationales support early cosmetic genital surgery for infants with DSD. First, it is believed "normalization" of the child's atypical genitalia minimizes family distress and mitigates stigmatization and gender-identity confusion. Second, literature supports better surgical outcomes when surgery is performed early (including gonadectomy). Third, delaying surgery has potential disadvantages. It is unlikely a child will possess the developmental maturity to "request" painful surgery regardless of his or her desire for gender-genital congruence. By delaying surgery until more developmentally mature and able to ask, there is potential an adult with a DSD could find himself or herself with inadequate health insurance coverage to support surgical reconstruction if or when desired.
Normalization. Parents of infants with DSD demonstrate a strong desire to surgically normalize the sexual anatomy of their children. Many view surgery as "necessary" and do not believe it to be something requiring complex decision-making. Parents see the appearance of the genitalia as a "problem" (from the perspectives of both esthetics and function) and surgery "the solution" to that problem. Providers, in turn, respect the autonomous request of the parents by performing gender-validating surgery for the "good" of the infant.
Early surgery minimizes psychological stress and stigma. A benefit of performing early genitoplasty has been to de-stigmatize the child and free him or her from feelings of physical difference. Timely treatment is intended to prevent psychological stress and social stigma associated with these differences (Sharma & Gupta, 2008). Parents and providers support early surgical alteration because children (and adults) desire visible evidence that the sexual anatomy matches the psychosocial and gender identity. Further, they fear the child will face humiliation and bullying (ostracism) if the genitalia are atypical (Roen, 2008). Simply put, for individuals to achieve complete sexual and gender identity, many persons (both parents and providers alike) believe boys need a penis and girls a vagina. Therefore, the earlier these are actualized, the better the psychosocial adjustment and emotional outcome for all involved.
Early genital surgery: Superior outcome. Because there are beneficial effects from estrogen during the newborn period, pediatric and cosmetic surgeons suggest genital surgery is "easier" to perform and yields an improved outcome. Performing certain surgeries in infancy averts potential problems from uncorrected anatomical differences (e.g., genitourinary tract abnormalities that may place infants and children at risk for urinary and renal dysfunction) that should be corrected in the newborn period. In addition to prenatal androgen exposure, there is risk for ongoing androgen exposure in male infants who are assigned female gender if early orchidectomy is not performed. Removal of the testis in female-assigned infants will ensure the best cosmetic appearance.
Timing. Another consideration in support of early surgical repair must be considered. If surgery is delayed until the child self-determines his or her phenotypic sex (in early childhood), it is possible the child will defer surgery at younger ages. To request a painful procedure at this developmental stage, the child's desire would have to be incredibly strong, and it is unlikely a child would follow through. This, in turn, may leave the child with incongruent genitalia until adolescence when the child is developmentally mature to make this decision and willing to undergo surgery. In the interim, concerns regarding gender and genitalia may fuel social stigma and place the child at risk for complex psychological and social problems.
Insurance coverage limitations. Lastly, an advantage of performing genital reconstructive surgery during infancy and childhood pertains to government mandates regarding health insurance to children. Insurance policies are more likely to include surgery for congenital malformations of the genitals associated with DSD during infancy and childhood. If surgery is delayed, adults with DSD may not have insurance health coverage or the financial resources to have surgery performed. There is realistic concern that insurance companies may not cover genital surgery beyond infancy and childhood because it may be interpreted as a "sex-change" and not medically necessary. Although it would be nice to believe surgery for these diagnoses would be a protected insurance mandate, the American insurance and legal systems have yet to fully understand and recognize the complexities of gender assignment and gender self-assignment (Deftos, 2008). Therefore, this remains a potential risk when contemplating surgical delay.
Advantages of Delaying Early Cosmetic Genital Surgery
In addition to the benefits of performing early genitoplasty, there are also advantages to delaying cosmetic genital surgery for infants with DSD. First, there are unknown influences regarding gender (independent of sex), and there is no guarantee the correct gender will be or has been assigned during infancy. If surgery has been performed and gender dysphoria develops, options for surgical alterations as well as potential fertility may be exhausted. In addition, delaying surgery respects the autonomy of the infant (now child, adolescent, or adult), and ensures treatment and surgical decisions can be made in his or her own best interests. Lastly, future sophisticated surgical techniques may offer improved function and cosmetic outcomes.
"True" sex assignment and gender identity. Gender identity is far from straightforward. It is a complex biological and psychological process with prenatal and postnatal influences. After gender is determined, parents are often led to believe the true sex of their child has been identified. Parents find comfort in knowing the "truth" (true identity) regarding their infant's "maleness" or "femaleness" has been confirmed.
In actuality, however, providers and parents make the best educated guess to "choose" the "optimum gender" for the infant. Although a sex has been assigned, there is no way to confirm the child's gender identity until childhood or later. Changing the genital appearance of an infant through gender-validating surgery does not ensure the development of an uncomplicated gender identity. In other words, the appearance of genitalia consistent with the sex of rearing is not protective against experiencing gender dysphoria later in life. Delaying surgical alterations avoids potential for future gender genitalia mismatch.
Greater future surgical options and superior outcome. There is increasing evidence to support patient dissatisfaction with surgical outcomes when cosmetic and anatomical feminizing surgical changes are performed during infancy (Creighton, Minto, & Steele, 2001). In other words, it is unclear whether the past practice of early genital surgery is successful both cosmetically and functionally. Most children who undergo vaginoplasty in infancy require additional surgery during adolescence. Since a vagina is not "essential" until later adolescence or adulthood, it seems reasonable to defer surgery until that time. Additionally, by delaying surgery, techniques may improve with time and future genital surgeries may better preserve clitoral sensation or provide satisfactory penile reconstruction.
Ensuring options for change. If genital surgical alteration is deferred, patient autonomy is respected, which ensures self-identify and as such, allows individuals to make their own decisions regarding what they would like (or not like) cosmetically altered. Waiting ensures surgical options for change have not been limited (or even exhausted) based on prior surgical intervention. It leaves a "clean slate" for future surgeries and would allow for pubertal sex (gender) reversal if chosen by the patient.
Undervirilization does not mean female. When considering sex assignment and gender-affirming surgical options regardless of age, it is technically easier to perform surgical feminization than masculinization. For males with undervirilization or severe micropenis, providers and parents have made patient care decisions based on the belief that a child (and future adult) will negatively perceive this sexual difference. Much of the past advice to parents has been based on the reality that it is easier to construct a functioning vagina than a functioning penis. Therefore, gender assignments were often based on which was more technically possible rather than most genetically congment.
Although sexual problems may arise for adults with severe undervirilization, it is unclear whether this may or may not be of concern for any one person. Individuals with DSD require time to understand their health condition, allow medicine and surgical techniques and treatments to continue to advance, and at puberty, allow the individual to determine how severe this difference is and make his own autonomous decision regarding treatment. Delaying surgical feminization and sex reassignment should be considered for undervirilized males because this is an autonomous choice the child should have the opportunity to make, and not a decision made for him.
Preserve fertility. In addition to addressing surgery to alter anatomical differences, it is important to consider maintaining potential for future fertility for those who are candidates. Today, technological advances allow for fertility enhanced through in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). If viable gonads are surgically removed early in life, the reproductive capability for that individual has been destroyed. If the gonads remain intact, however, they may yield the ability for the individual to reproduce in the future (however technologically assisted). Although not a cosmetically altering genital surgery, performing orchidectomy on a female-assigned infant limits the potential for this infertile woman to father a child. Delaying surgical removal of gonadal structures will leave options to preserve potential fertility. This is a decision that should be made by a consenting adolescent or adult, not a decision made by his or her parents and providers.
What the Future Holds
Although there is growing consensus among current policies regarding the care of individuals with DSD, there remain varying opinions regarding the most controversial: early cosmetic genitoplasty. There is no doubt sex and gender are complex, and whether to perform or delay genital surgery remains a robust debate fraught with ethical controversy. Although it was believed that early genital surgical alteration relieved parental distress and improved parent-infant bonding, this is anecdotal. Based on the work of ISNA and Accord Alliance, in the absence of severe clitoromegaly, some parents are less inclined to choose surgical alteration for infants.
The Consensus Statement on Intersex Disorders and Their Management (Houk et al., 2006; Hughes, Houk, Ahmed, Lee, & LWPES 1/ESPE2 Consensus Group, 2006) has amended earlier guidelines and now recommends surgical intervention only in cases of severe virilization. Although not totally in concert with the initial crusade of INSA, it is a step in the right direction. In addition, the Consensus Statement reiterates the importance of preserving orgasmic and erectile sensation by refocusing on genital function, not just cosmetic appearance (Consortium on the Management of Disorders of Sex Development, 2006; Gillam, Hewitt, & Warne, 2010; Houk et al., 2006; Lee, Houk, Ahmed, & Hughes, 2006) (see Table 3). Based on these changes, some parents may delay genital surgery in infancy. If this trend continues, providers may not only encounter individuals with DSD having undergone gender reassignment and early genital surgery, but also surgically naive individuals with mixed gender phenotypes.
There is no doubt health care providers and grassroots movements will continue to debate, and treatment guidelines will continue to be revised, to determine if, when, or to what extent parents and providers should intervene to normalize the physical appearance of genitalia for non-consenting infants and children with DSD. Unfortunately, there is no straightforward answer. The benefits and limitations of each case must be weighed carefully and the best decisions made from biological, surgical, and psychosocial perspectives. No one decision or approach is right for every individual. It is, therefore, imperative that despite what providers and parents may believe, in most cases, there is no surgical urgency to genitoplasty and gonadectomy. Eliminating the preconceived notion that surgical decision-making for infants is emergent provides opportunities to listen to the adult community living with DSD and reassess the longstanding traditionalist approach to early genital surgery for intersex infants. When considering treatment and surgical options, providers and parents must apply the moral principles of autonomy, beneficence, and nonmaleficence to ensure the best interests and safe decision-making for the non-consenting infant. In the end, care providers and parents must focus on the ultimate goal: To do what is in the "best interest" of the infant, child, and autonomous adult.
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Sharon Anderson, DNP, NNP-BC, ANP, is an Instructor, Rutgers School of Nursing, Newark, NJ, and an Advanced Practice Nurse in Pediatric Medical Genetics, Child Health Institute of New Jersey, Robert Wood Johnson University Hospital, New Brunswick, NJ.
Table 1. Selected Disorders of Sexual Differentiation Disorders of Sexual Differentiation Disorder Description Genital Appearance Conditions Associated with Prenatal (Postnatal) Virilization of 46,XX Individuals * 46,XX with Endocrine disorder Female (normal congenital adrenal where the adrenal ovaries and hyperplasia (most glands produce uterus) with common cause 21- extremely high genital hydroxylase levels of masculinzation deficiency) virilizing ranging from mild hormones inutero. clitoromegaly to clitoral hyperplasia resembling a male phallus with complete fusion of the labioscrotal folds forming empty scrotum (virilized female genitalia). Disorders of Undervirilization of 46, XY Individuals * 46,XY with Caused by mutation in Male with feminized androgen the androgen genitalia and insensitivity receptor gene. inability to syndrome Partial or complete respond to deficiency leads to testosterone inability to (undermasculinized respond to male genitalia). androgens, which impairs masculinization of male genitalia in the developing fetus. Complete Deficiency Female external No androgen action. genitalia with short, blind- ending vagina, intrabdominal or inguinal gonads. Partial Deficiency Degree of Partial androgen virilization and insensitivity. ambiguity depends on degree of androgen binding capacity. * 46,XY 5-alpha- Genetic condition Male with testis reductase makes individuals and male-typical deficiency unable to convert testosterone testosterone to levels, genitalia dihydrotestosterone may appear to virilize underdeveloped external with hypospadias genitalia in utero. or female with mild clitoromegaly /microphallus, bifid scrotum, pseudovaginal perineoscrotal hypospadias, rudimentary prostate. Genitalia masculinizes during puberty often with an inadequate phallus, testes are intact and usually found in inguinal canal or scrotum, pseudovaginal blind-ending entroitus with absent uterus. Other Conditions Associated with Gonadal Dysgenesis Ovotesticular DSD Formerly "true May present as hermaphroditism." fairly "typical" Presence of ovarian male or female and testicular phenotype. tissue/streak gonads. Persistent Caused by inability to Male phenotype and Mullerian duct produce Mullerian underdeveloped, syndrome (46,XY) inhibiting factor Internal uterus during fetal and fallopian development. tubes. Other Conditions Associated with Gonadal Dysgenesis Gonadal Underdeveloped or Defective gonadal dysgenesis imperfectly formed development of gonads, gonadal internal and tissue, rudimentary external structures. reproductive structures (genitalia, genital ducts and secondary sexual development). Complete XY gonadal Streak gonads with dysgenesis. normal female external genitalia. Partial XY gonadal Associated with dysgenesis. incomplete testis. Sex determination is based on phenotype based on varying degree of virilization. Sex Chromosome Abnormalities Turner syndrome Absence of two Female phenotype, (45,XO) complete copies of ovarian X chromosome dysgenesis, (45,XO). decreased estrogens, delayed sexual development, amenorrhea, infertility problems. Klinefelter Presence of at Male phenotype, syndrome least one or more microorchidism, additional X small testes, chromosome from decreased normal male androgen karyotype. production, 47,XXY; or azoospermia. multiple Xs with one Y. 46,XY/45,XO Combination of 46,XY Turner syndrome mosaicism (male) with 45,XO phenotype with (Turner syndrome). variable genitalia. Majority have male genitalia but some have ambiguity with abnormal testicular development. SRY, ST1, SF1 Single gene mutations External genitalia related to may not look WT1, SOX9 testicular "typically" male Implicated in development. or female, other 46,XY gonadal abnormalities of dysgenesis the genitals and reproductive organs may be present. Other Syndromes/Conditions with Genital Abnormalities Cloacal exstrophy Abnormal Features include of the bladder embryogenesis wide pubic causing multiorgan symphyseal pelvic defect diastasis, resulting in severe omphalocele, inadequacy of imperforate anus, absence of exstrophy of two genitalia. hemibladders with failure of anterior fusion, shortened small bowel that ends blindly in pelvis, severe inadequacy or absence of genitalia. Perineoscrotal Congenital defect Normally appearing hypospadias of the masculinized male genitourinary tract genital with where the urethral urethral opening opening is below between scrotum the scrotum. and anus. Micropenis Significantly small Penis size less penis with normal than 2 cm (or 2.5 internal male SD below the mean genitalia. for age or stage of sexual development). Other Syndromes/Conditions with Genital Abnormalities Penile agenesis Results from absence Congenital absence (aphallia) of genital tubercle of phallus with or its failure to well-developed fully develop. scrotum, presence of skin tag at anal verge with of without urethral meatus. Associated with genitourinary tract and non-genitourinary anomalies. Penile ablation Loss of penis from Absent/altered traumatic injury. penis. Vaginal agenesis Congenital anomaly Congenital defect that may be of the isolated or genitourinary associated with tract where the uterine and urethral opening urogenital sinus is below the abnormalities. scrotum. Delayed detection can result in risk from associated, unidentified urinary tract (renal) anomalies. Disorders of Sexual Differentiation Disorder Surgical Treatment Options Conditions Associated with Prenatal (Postnatal) Virilization of 46,XX Individuals * 46,XX with Female Assignment congenital adrenal Clitoral reduction and hyperplasia (most reconstruction of vaginal common cause 21- opening. hydroxylase Male Assignment deficiency) Gonadectomy, hypospadias repair and removal of Mullerian structures. Disorders of Undervirilization of 46, XY Individuals * 46,XY with androgen insensitivity syndrome Female Assignment Removal of contradictory gonadal tissue secondary to risk for gonadoblastoma. Male Assignment Move testis into scrotum, hypospadias repair. * 46,XY 5-alpha- Female Assignment reductase Feminizing genitoplasty, deficiency gonadactomy, restructuring of labioscrotal folds into labia, vaginoplasty, phalus reduction. Other Conditions Associated with Gonadal Dysgenesis Ovotesticular DSD Removal of contradictory gonadal tissue. Female Assignment Removal of intrabdominal testis or streak gonads, removal of Wolffian structures and testicular tissues. Male Assignment Removal of Mullerian structures and ovarian tissue, orchioplexy. Persistent Removal of contradictory Mullerian duct gonadal tissue (see above). syndrome (46,XY) Other Conditions Associated with Gonadal Dysgenesis Gonadal Surgical intervention dysgenesis disorder-specific. Sex Chromosome Abnormalities Turner syndrome None. (45,XO) Klinefelter None. syndrome 46,XY/45,XO None. mosaicism SRY, ST1, SF1 None. WT1, SOX9 Implicated in 46,XY gonadal dysgenesis Other Syndromes/Conditions with Genital Abnormalities Cloacal exstrophy Surgical correction of of the bladder congenital defects and phallic reconstruction or feminizing genitoplasty. Perineoscrotal Staged surgical correction of hypospadias hypospadias. Micropenis Surgical reconstruction or elongation of penis. Other Syndromes/Conditions with Genital Abnormalities Penile agenesis Phallic reconstruction. (aphallia) Penile ablation Phallic reconstruction or feminizing genitoplasty. Vaginal agenesis Vaginal reconstruction including creation of neovagina, vulvovaginoplasty. Table 2. Four Fundamental Principles as a Framework for Moral Reasoning in Health Care Principle Key Points Autonomy * A norm of respecting the decision-making capacities of autonomous persons. * The right for an individual to make his or her own choice. * Personal self-governance. * Voluntary decision-making. Beneficence * A group of norms for providing benefits and balancing benefits against risks and costs. * Moral obligation to act with the best interest of the other in mind. * Often considered the foundational value. Nonmaleficence * A norm of avoiding causation of harm. * "Above all, do no harm." Justice * A group of norms for distributing benefits, risks, and costs fairly. * Fairness and equality among individuals. * Equals should be treated equally. Source: Adapted from Beauchamp & Childress, 2010. Table 3. Ethical Principles to Guide Treatment for Individuals with Disorders of Sexual Differentiation 1 Minimizing physical risk to the child. 2 Minimizing psychosocial risk to the child. 3 Preserving potential for fertility. 4 Preserving or promoting capacity to have satisfying sexual relations. 5 Leaving options open for future. 6 Respecting the parents' wishes and beliefs. Note: Adapted from Gillam, Hewitt, & Warne, 2010. Figure 4. The Prader scale (A) is a grading system used to measure the degree of genital virilization (masculinization) on a scale from "0" to "5". Stage "0" refers to an unvirilized female whereas stage "5" reveals complete virilization (a female who appears externally male at birth). The chart below the image (B) describes the images of the Prader virilization stages. B Stage Description 1 Clitoromegaly without labial fusion. 2 Clitoromegaly and posterior labial fusion. 3 Greater degree of clitoromegaly, single perineal urogenital orifice, and almost complete labial fusion. 4 Increasingly phallic clitoris, urethra-like urogenital sinus at base of clitoris, and complete labial fusion. 5 Penile clitoris, urethral meatus at tip of phallus, and scrotum-like labia (appear like males without palpable gonads). Source: Image reprinted with permission from Emerick, 2012.
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