Genital Fixations 

Prenatal diagnosis. 3-D ultrasound. Fetal surgery. The reproductive landscape has blossomed vividly in recent years. Cutting edge technologies have thrust the seemingly mundane activities of pregnancy and childbirth into a brave new world populated by unborn patients, techno-maternal environments, and cowboy surgeons. Prenatal interventions have become a valuable tool in the quest for designer babies, particularly among middle- to upper-class Americans with health insurance.

The latest boutique treatment, dexamethasone, targets fetuses at risk for congenital adrenal hyperplasia (CAH), an endocrine condition that can lead to atypical genitalia. But while the new procedure promises familiar anatomy, it does not cure the underlying condition of CAH. And therein lies the ethical rub.

Dexamethasone, a corticosteroid, is given to pregnant women considered to be at risk for bearing a female child with CAH. It works by suppressing the production of androgens (or “male” hormones) in a developing fetus, thereby limiting or preventing genitals that appear masculine. Clinical data about the procedure are mixed, to say the least. Vocal advocates such as Dr. Maria New suggest that the end result—a girl child with feminine genitalia—is worth any potential side effects. Critics, on the other hand, argue that too much is unknown to begin widespread use of the procedure. What does seem clear is that the procedure evokes important questions about risk, fetal and maternal health, and the social costs of using medicine to make everybody look the same.

The Trouble with Ambiguity
The term "intersex" refers to conditions in which an individual’s anatomy—specifically genitalia but also other characteristics such as chromosomes and internal sexual/reproductive anatomy—is defined as “ambiguous” or atypical for that person’s sex, or in which there is a specific type of endocrinological deficiency or imbalance. Anatomical dissimilarity may appear at birth (and may even be diagnosed before birth), but also can sometimes appear later in a person’s life, for example at puberty. There is considerable variation among definitions of intersex used by doctors, scientists, and laypersons. The intersex patient rights movement and feminist scholars have advanced the idea that intersex, like other concepts related to sex and gender, is constructed and contested. That is, while intersex conditions may be based in “nature” through the actions of genes and hormones, our understanding of the significance of these conditions is social, cultural, and political.

Historically, “hermaphrodites”—as the intersexed were once misleadingly called—were viewed alongside other non-normative humans as what Rosemarie Garland Thomson calls “fantastic monsters.” Their bodies were perceived as signs of wonder and spiritual curiosity. With the rise of medicine’s power to technically manipulate and transform human bodies, people with visible intersex conditions began to be reconceptualized as medical oddities in need of correction. Beginning in the early twentieth century, atypical genitalia and other physical characteristics were considered not just different but abnormal, a departure from the way human beings were supposed to look and function. While these views have been somewhat tempered, the modern belief that intersex is gross pathology in need of repair endures.

Intersex has been a major site of medical normalization for half a century. These efforts began with the work of psychologist John Money at Johns Hopkins University in the 1960s. Quite progressive at the time, Money’s research was later found to be questionable at best and even unethical. John Colapinto’s excellent book As Nature Made Him documents some of Money’s more egregious offenses. The premise behind Money’s experiments was that any child could be raised in either gender, provided that the gender assignment was reinforced by appropriate social cues such as dress, toys, and behavior. This theory was interpreted to mean that regardless of a child’s “true” sex, which sometimes could not be determined, the child could—and indeed should—be raised as either a boy or girl. Thus the standard of care for intersex treatment was, until very recently, widespread cosmetic surgery on infants and children with atypical genitalia in order to ensure an appropriate sex/gender classification.

Why do such categories matter? In the United States, especially in conservative political times, stigma is attached to bodies and practices that challenge the existing heterosexist order. Not only are putatively offensive bodies subject to normalization and disciplining by social institutions, but so, too, are a range of queer practices and sexualities. For evidence one need only look to passionate debates about and intolerance of gay marriage. Inhabiting an anatomically correct body with corresponding, legitimate gender and sexual behavior matters tremendously in a culture organized around rigid binary categories of sex, gender, and coupling. Like “deviant” sexualities, nonconforming anatomies are seen as diseases capable of infecting the social body. For example, the American Academy of Pediatrics (AAP), one of the nation’s leading medical organizations, refers to the birth of a child with atypical genitalia as a social emergency.

In the 1990s an alternative meaning of intersex emerged to challenge notions of pathology. Cheryl Chase, founder and executive director of the Intersex Society of North America (ISNA), drew on her own experiences to spawn a social movement against involuntary normalizing treatment and for greater acceptance and understanding. Chase was born with testicular and ovarian tissue, a rare diagnosis referred to as “true hermaphroditism.” She was assigned a male gender, but at eighteen months of age was deemed by a different physician, on the basis of histological examination of her gonads, to have enough ovarian tissue (and thus sufficient potential for female fertility) to be reclassified as a girl. Once this determination was made in the operating room, physicians performed a clitorectomy without discussing this with her parents or seeking their consent.

After the surgery, according to Chase, her parents were told that she was “actually” a girl and “they had removed the troublesome genital appendage responsible for the confusion.” Chase’s parents destroyed evidence of her brief existence as a boy and, upon their physician’s advice, lied to her about her origins and sex reassignment. When as an adult Chase learned the truth by recovering her own medical records, she vowed to improve the lives of people with intersex conditions, first by simply naming a previously hidden problem cloaked in shame and secrecy, but also by changing medical practices surrounding intersex.

The resulting movement has challenged and transformed standard care for intersex. Activists identified problems in treatment such as deception, lack of consent, and negative outcomes of surgery with respect to sexual function. They also exposed a disparity in treatment: More often than not, children with atypical genitalia are “turned into” girls rather than boys, in part because the surgery (i.e., removing rather than adding organs) is considered to be technically easier. Above all, the intersex patient rights movement advocates that parental and social distress should not be treated by surgery on the affected child. This perspective is shared by a growing number of physicians and ethicists.

Evolution of Prenatal CAH Treatment
CAH is a genetic disorder of the adrenal glands in which a missing enzyme causes overproduction of “male” hormones, leading to physical changes and illness in both girls (typed XX) and boys (typed XY). There are many different types of CAH. The most common form, responsible for about 95 percent of all cases, is 21-hydroxylase (OH) deficiency with symptoms varying by degree. For example, non-classical CAH can result in excess body hair, early development of pubic hair, irregular or absent menstruation, infertility, and other symptoms. Classical CAH is more severe and may result in adrenal crisis as well as the development of atypical genitalia in individuals typed XX. The bodies of people with CAH may not be able to produce cortisone, a hormone that aids in stress response, or to produce aldosterone, which is needed to control salt levels. Some individuals with CAH experience “salt wasting,” a debilitating and sometimes fatal condition that must be treated immediately.

The usual medical approach for babies and children with CAH is the administration of steroids to prevent adrenal crises and to bring hormones to levels compatible with health. Most individuals with CAH need to take these drugs, usually hydrocortisone and/or fludrocortisone, throughout their lives. The non-medical and non-life threatening “problem” of atypical genitalia in newborns has been addressed in much the same way for CAH as it has been for other intersex conditions: surgically. For CAH, the typical steps include clitorectomy and/or vaginoplasty, followed by vaginal dilations. Like dexamethasone, surgical procedures are used not to secure better health but rather to produce socially acceptable bodies.

While no formal protocol has been established for the use of dexamethasone therapy, physicians follow a typical procedure when predicting and treating pregnant women and their fetuses. Only mothers who have previously given birth to children affected with CAH are said to be “at risk” for carrying another affected child. These women may be offered prenatal diagnosis and treatment at selected centers around the country, such as Mount Sinai where Dr. New practices. Dexamethasone is given to the mother to suppress fetal androgen production before and during the period of sexual differentiation in the fetus. In order for treatment to be effective, it must begin at or before the ninth week of gestation and continue throughout the pregnancy. Treatments are stopped only if the fetus is determined to be a male or an unaffected female.

Prenatal diagnosis of CAH is possible using a variety of methods including amniocentesis and chorionic villus sampling. These procedures are typically performed between ten and sixteen weeks. The various forms of CAH are autosomal recessive disorders, which means that to be affected, a fetus must inherit a mutated gene from both unaffected parents, each of whom carry one mutated gene. As a result, any particular fetus conceived by two carrier parents has only a 25 percent chance of being affected. Approximately half of all fetuses treated with dexamethasone will be boys (or individuals typed XY) and thus not at risk for developing atypical genitalia associated with CAH. About 75 percent of female fetuses tested will also show no evidence of CAH. Because the diagnosis of CAH cannot be confirmed until later in the pregnancy, seven out of eight fetuses and their mothers are being exposed unnecessarily to dexamethasone for up to sixteen weeks of gestation.

Inconclusive Data and Clinical Friction
Proponents point to favorable physiological and social outcomes as evidence of dexamethasone’s promise. They assert that the procedure reduces genital virilization in a majority of CAH affected female fetuses. They also claim few significant short or long term negative effects on pregnant women and their fetuses. Importantly, dexamethasone supporters frame the treatment as a means to prevent genital surgery after birth. Supporters believe there may be psychological benefits to the parents of an affected fetus, such as reducing the stress of raising a child who is different, and also to fetal patients later in life.

Physicians critical of prenatal dexamethasone raise several concerns. Dr. Walter Miller of the University of California, San Francisco, describes the procedure as “an experimental therapy of unproven safety,” in part because diagnosis cannot be made before treatment is begun. Others emphasize the imperfection of diagnostic techniques. And while advocates of the treatment argue that it spares infant girls the consequences of genital ambiguity (i.e., genital surgery, sex misassignment, and gender confusion), about half of affected females are still deemed to require at least one genital surgical procedure after birth. Dexamethasone may reduce virilization, but it certainly does not eliminate it.

Pregnant women treated with dexamethasone report excessive weight gain, mood fluctuations, striae or streaking of the skin, acne, and edema. The American Academy of Pediatrics describes maternal side effects as “serious and long-lasting.” Concerns about fetal health also abound. Doses of dexamethasone are supraphysiological; that is, fetuses are exposed to hormone levels ten times higher than they would experience in a typical gestation. Though studies are inconclusive, there is some evidence that treated fetuses may have reduced birth weight and also may have a higher risk of experiencing a severe medical event during the first year of life. After birth, some children show no signs of ill effects, whereas others exhibit increased emotional lability, unsociability, behavioral problems, cognitive disturbances, or anomalies in the central nervous system.

Critics of dexamethasone engage in biomedical tinkering. That is, while they identify problems with the procedure they also exhibit a chronic reluctance to see non-intervention as a viable option. Cautionary figures propose technical solutions to dexamethasone’s problems, such as reclassifying the treatment as experimental and conducting all procedures within a formal research protocol. All fetuses, including the seven of eight in whom treatment is unwarranted, would be tracked from treatment through birth, childhood, and adulthood. Yet while such changes may enhance the way dexamethasone is used, they will do little to prevent its use in the first place.

Some Ethical Considerations
A major problem with dexamethasone treatment is that it is not, in fact, a treatment at all. Dexamethasone administered prenatally neither cures nor inhibits CAH in affected fetuses, nor does it alleviate illness due to CAH after a child is born. What it may do is prevent a certain type of nonstandard anatomy, genital virilization, or nonstandard behavior (e.g., lesbianism or gender dysphoria), from occurring in female (XX) fetuses. But atypical genitalia are not, in and of themselves, pathological. Children do not develop illnesses or die from having genitals that do not resemble those of their peers.

Advocates of dexamethasone argue that it can prevent damaging cosmetic genital surgery after birth. But surely the best way to avoid the consequences of genital surgery in infants is to stop performing such surgeries in all but the very rarely occurring life threatening cases. Resolving one medical problem—the harmful impact of genital surgery on children’s bodies and subsequent adult sexual function—with a sketchy prenatal intervention is not guaranteed to produce healthy, whole children. Indeed, creating acceptable genitals in children does nothing to improve the social conditions that produce the definition of intersex bodies as deviant. It also fails to “fix” the lives of children and adults with intersex conditions.

Who ultimately benefits from dexamethasone treatment in utero? Certainly not unaffected fetuses exposed to steroids for weeks at a time, nor the pregnant women carrying these fetuses who may experience considerable side effects. Perhaps fetuses with CAH are benefited by dexamethasone. But without long term, comprehensive outcome data, there is no way to gauge whether a perceived surgical benefit extends to social and psychological realms. For example, nobody knows whether less virilized genitalia in girls represents a good enough benefit to compensate for the negative effects of dexamethasone therapy on brain development and function. The therapy is deemed of great benefit to parents who are forecast to have tremendous difficulties raising children with anomalous genitals—an apt prediction based in large part on the very real challenges faced by parents of children with disabilities and impairments.

Of course, society itself is also positioned as a beneficiary of the normalizing procedure. Dexamethasone treatment may result in fewer “defective” babies to treat surgically or to integrate into society. A larger social message of conformity and intolerance lurks behind the clinical façade of dexamethasone treatment—especially when we consider that it is not used to cure CAH but rather to correct bodies marked as offensive. In the words of Jane Goto, director of community relations at ISNA, “Reading up on (dexamethasone treatment] when I got home gave me pause. I struggle with the dilemma of whether or not I want to contribute to (and support) research that may very well improve prenatal screening to the extent that people like me will eventually cease to exist.” Is such normalization one step closer to eradication?

Human Rights and the Future of Difference
In South America the Constitutional Court of Colombia in 1999 limited the conditions under which doctors can perform genital altering surgery on children, declaring that such interventions have not been proven safe or effective. The court held that intersex people constitute a minority population deserving of protection by the state against discrimination. It found genital surgery to be a violation of an individual’s autonomy and integrity. The court’s decision reiterated the rights of parents to make decisions on behalf of their children, but also recognized that the state can intervene if there are clear risks to the child. The court mandated a high degree of informed consent, but also ruled that parents cannot consent to surgery on children over five years of age. In doing so, the court recognized the rights of the child with an intersex condition to determine what happens to his or her own body.

In 2005 the San Francisco (California) Human Rights Commission (SFHRC) issued “A Human Rights Investigation Into the Medical ‘Normalization’ of Intersex People,” recognizing that there is no evidence that surgical interventions are safe or effective, that there is significant inconsistency among physicians and ethicists regarding intersex management, and that intersex people who have been subjected to normalizing treatments face major, long term, negative emotional and physical consequences. The report declared that genital surgery done only to normalize a child’s body and not for any underlying condition is a violation of that individual’s human rights. Interventions performed without a patient’s consent are human rights abuses. The report concluded, “it is ethically wrong to treat people differently or unfairly because they are perceived by others to be ‘monsters’ or ‘oddities.’”

The Constitutional Court of Colombia and the SFHRC recognized violations inherent in childhood genital surgery. But confining genital altering treatment to the womb, as dexamethasone promises to do, fails to resolve these ethical conundrums. The rights of people with intersex conditions to live in a world free of discrimination and damaging medical treatment and to have sexually intact and functional organs have been upheld at the same time that a risky procedure designed to refashion fetal bodies is pursued with little more than ethical fine tuning. Human rights perspectives are noticeably absent from clinical discussions of dexamethasone treatment. This is unfortunate, as these frameworks reveal the deeper social costs of medical normalization while also expanding the category of human to accommodate people with all types of bodies.

We suggest that not treating fetuses with atypical genitalia is a viable clinical option, and, moreover, that it is a deeply moral approach to the enduring “problem” of anatomical differences.

Monica J. Casper is the director of Women’s and Gender Studies and the associate professor of sociology at Vanderbilt University. She is author of The Making of the Unborn Patient: A Social Anatomy of Fetal Surgery (Rutgers University Press, 1998). In 2003, she served as executive director of ISNA.

Courtney Muse is a doctoral student in sociology at Vanderbilt University. Her interests include gender and sexuality, identity and mental health, and social psychology.