American Journal of Law & Medicine

Sex and the surgeon's knife: the family court's dilemma ... informed consent and the specter of iatrogenic harm to children with intersex characteristics.

    "When I use a word," Humpty Dumpty said, in a rather scornful 
     tone, "it means just what I choose it to mean, neither more 
     nor less." 
    "The question is," said Alice, "whether you can make words mean so 
    many different things." 
    "The question is," said Humpty Dumpty, "which is to be master 
    --that's all." 
    --Lewis Carroll (1) 


"Sex" is a complex thing. The word conjures up many images according to how it is used. When narrowed to the context of the law, however, a person's sex can be broken down into three primary categories: biological sex, common law sex, and legal sex.

Biological sex has traditionally been determined according to the presence or absence of genitals and gonads (phenotype), and the configuration of the sex chromosomes (karyotype). (2) Recently the importance of the brain's sex as a biological factor influencing sex determination has gained wider recognition. (3) Common law sex is the sex declared or declarable by a court. (4) In the most recent case considering how an individual's sex should be determined, the Family Court of Australia laid down an inclusive test requiring consideration of factors other than basic biological ones. (5) Legal sex is the documented sex, which is recorded on birth certificates, passports, and like instruments. (6) Each method is different, and the question is, as Humpty so wisely observed, "which is to be master?"

The question of an individual's sex is a socially and culturally important one. Freud wrote that "when you meet a human being the first distinction you make is 'male or female?' and you are accustomed to making the distinction with unhesitating certainty." (7) Almost invariably through the ages, the first question asked following the birth of a child has been, "Is it a boy or a girl?" The birth event is a joyous one for parents, giving no cause for doubt, and the answer is readily given. Or is it? In fact, the path for a developing fetus to an unambiguously male or female state is littered with many pitfalls and traps along the way. (8) A bewildering number of hormones and growth factors are involved in sex determination and differentiation, and for some, their development is via a path less followed, and an answer to the question of sex cannot so easily be provided. (9)

Sex differentiation, the process of becoming either male or female, is one of the best studied of all developmental processes because these ambiguities tax our very notion of what it is to be a man or a woman. (10) Yet our understanding is still substantially limited and studies continue, particularly in the area of neuroanatomy. Scientists now strive to comprehend the influence of the sexually dimorphic brain on our sense of sexual identity. (11) In simple terms, the default path for sexual differentiation is female, and the male path requires the action of testosterone to masculinize the otherwise female fetus. In some cases, however, fetal development does not proceed as expected and ambiguities in sexual formation occur within or between the genitals, gonads, chromosomes, and brain. (12) The many different conditions that can give rise to an individual exhibiting "characteristics of both the male and female sex of the species" are commonly grouped under the medical umbrella term, "intersex." (13)

Where ambiguous genitalia are present, early identification of the existence of an intersex condition can often be made by a physical examination alone. A more subtle manifestation of atypical sexual differentiation may not be brought to the attention of physicians until the expected time of puberty, however, or possibly later, when sterility or sexual identity is at issue. (14) Even so, it is still thought that more than half of patients with incomplete sex differentiation are not properly diagnosed. (15)

Given that some researchers now suggest a frequency of 1.7 intersexed births per 100, (16) with surgical rehabilitation required in one in 2000 births, (17) it seems logical that there should be no more emotive issue for society to grapple with than the question of the sex to be allocated to children in circumstances where the various determining factors are not in harmony. (18) The debate is silenced, however, by the secrecy attendant upon intersexed births, (19) and the humiliation and even shame (20) foisted upon those who were born with variations in their sexual formation. The answer to that age old question, "boy or girl?," when there is ambiguity, has remained the special province of small cloisters within the medical profession and, occasionally, the courts.



There is considerable controversy surrounding the medical treatment of those who are "intersexed" and ongoing disagreement between commentators over just what conditions the term should encompass. Its narrowest usage would see the term "intersexed" limited to those who have "a discordance between phenotypic sex and chromosomal sex," (21) effectively confining "intersexed" to conditions of pseudohermaphroditism and most, but not all of the conditions of hermaphroditism. Even from the narrowest perspective, this definition can be criticized because it excludes some conditions in which there is clear genital ambiguity, such as hermaphroditism involving mosaicism in which some cells are XY and others are XX. (22)

Two of the more common conditions of pseudohermaphroditism are congenital adrenal hyperplasia (CAH) in 46,XX girls and androgen insensitivity syndrome (AIS) in 46,XY boys. (23) CAH occurs when "a defect in an enzyme involved in the synthesis of adrenal hormones leads to a blockage in one synthetic pathway [and gives] rise to excessive production of androgenic hormones in a different pathway." (24) "These androgens will masculinize a female fetus in utero [so that,] at birth, the [child's] genitalia may appear completely masculine, or, more commonly, the genitalia will be ambiguous." (25) Low fertility rates are common. (26) AIS occurs when the androgen receptors do not respond to male hormones such as testosterone in the expected manner, resulting in varying degrees of undermasculinization. In the most severe cases, the external genitalia may give the child a completely normal female appearance and it is likely the condition will not be diagnosed until there is a failure to menstruate. (27) True hermaphroditism is a rare condition in which the gonads have elements of both ovarian and testicular tissue. (28) While not necessary, ambiguous genitalia are often also present. Almost all people with hermaphroditism are infertile as males and most are infertile as females. (29)

Blackless et al. define as intersex any "individual who deviates from the Platonic ideal of physical dimorphism at the chromosomal, genital, gonadal or hormonal levels," (30) thereby at least including the sex aneuploides (conditions where the karyotype is other than 46,XY or 46,XX) in the nosology. While a number of variations in karyotype are possible, none of them is necessarily indicated by the presence of ambiguous genitalia and most do not encompass sexual identity issues. The two most common are Klinefelter and Turner syndromes. (31) Infants born with Klinefelter's syndrome have a 47,XXY karyotype and normal male genitalia, "male secondary sexual characteristics develop normally in puberty" and, while their testicles are typically small, there is no impairment of erectile and ejaculatory functions. (32) Most are discovered during infertility evaluations but an unknown number are fertile (33) and, being phenotypically indistinguishable from XY men, are likely to go undetected. (34) Women with Turner syndrome have a 45,X karyotype and are characterized by infertility and short stature. (35) They exhibit an unambiguous identification with the female sex and do not have ambiguous genitalia. (36) Most cannot conceive a child, but "can carry [one] to term if a donated embryo or oocyte is implanted." (37) The karyotype is itself immutable and sex assignment surgeries are usually only performed on people with sex chromosome aneuploides where there is also a degree of genital ambiguity. (38)

Perhaps most controversial of all, and yet perversely so, is the inclusion of transsexualism in the intersex nosology. (39) The often strident opposition it receives from groups representing those born with ambiguities within their genitalia, gonads, or chromosomes occurs despite it having been thus categorized since 1923 when it was first described by Magnus Hirschfeld. (40) Hirschfeld coined the term "transsexualism" and used it to "distinguish the neurological gynandromorph from the physiological hermaphrodite without establishing a new nosology." (41) Transsexualism is now believed to occur when the person's brain differentiates as to sex in the opposite direction to their genotype (chromosomes) and phenotype (gonads and genitals). (42) It therefore continues to be correctly regarded as another of the many different biological variations possible in human sexual formation in which the individual is neither wholly male nor wholly female. (43) Like many intersex conditions, transsexualism is sometimes readily discernible from a young age, but it may not become apparent until much later in life. (44) People with transsexualism actively seek surgical reassignment of their phenotypic sex so it accords with what they know themselves to be. (45)

Alice Dreger, prominent supporter of intersex rights in the United States and board member of the Intersex Society of North America (ISNA), provided a succinct explanation of the problem underlying any attempt to define intersex in exclusive terms.

   Broadly speaking, intersexuality constitutes a range of anatomical 
   conditions in which an individual's anatomy mixes key masculine 
   anatomy with key feminine anatomy. One quickly runs into a 
   problem, however, when trying to define "key" or "essential" 
   feminine and masculine anatomy. In fact, any close study of 
   sexual anatomy results in a loss of faith that there is a simple, 
   "natural" sex distinction that will not break down in the face of 
   certain anatomical, behavioural, or philosophical challenges. (46) 

It is difficult to imagine any sexually differentiated organ more important to sexual identity than the brain.


One of the most basic tenets of medical practice is encapsulated in the ancient invocation, "Primum, non necere." (47) Nowhere, perhaps, has the maxim become more relevant than in decisions regarding treatment of intersex infants born with ambiguous genitalia. (48)

Prior to the advent of modern surgical procedures, infants presenting with ambiguous genitalia were generally left as they were born. Depending on the nature and seriousness of their condition, some did not survive, while those that did often perplexed society and the law by transgressing the sex/gender binary. (49) Nevertheless, the major religions recognized them and some even prescribed their manner of living. (50) The English common law was informed on the subject as early as the 16th century when Lord Coke, the foremost English jurist of the Renaissance, declared with respect to the law of inheritance that

   an Hermophradite (which is also called Androgynus) shall be 
   heire, either as male or female, according to that kinde of the sex 
   which doth prevaile.... And accordingly it ought to be 
   baptized. (51) 

Unfortunately, though the question had ramifications for both inheritance and suffrage, his Lordship didn't specify a method of determining which sex prevailed.

During the second half of the nineteenth century the developing science of medicine began assigning sex in terms of the gonads and their histology rather than genitalia, (52) and from the mid-twentieth century on, often also in terms of the sex chromosomes. (53) Along with the growing understanding of the mechanism of sexual differentiation and the various biological factors involved in sex determination, surgical techniques were also improving. From the 1950s, the presence of ambiguous genitalia in infants came to be regarded as a "socio-medical emergency" to be dealt with by way of early "rehabilitative" interventions. (54) Although supposedly done to save the child from the trauma of its own "monstrosity," (55) these procedures were often performed on infants, sometimes barely days old, strongly suggesting their purpose was more to alleviate the distress of the parents and shield the wider community than to ensure the protection of the child's best interests. (56) Suzanne Kessler wrote:

   Lest there be any doubt about whom the genitals are for, one 
   team of researchers justifies doing surgery by saying it 'relieves 
   parental anxiety about the child with relatives and friends.' 
   Another surgical group is even more explicit in concluding that 
   'for a small infant, the initial objective is an operation to 
   feminize the appearance of the baby to make it acceptable to the 
   parents and family.' (57) 

At the same time sex chromosomes were gaining prominence in the determination of sex, reviews of the existing literature (58) and studies of intersex patients at Johns Hopkins Hospital in the United States (59) led to the conclusion that, in most cases, the gender assigned in infancy will be the one the patient carries into adulthood, regardless of the status of the standard biological indicators of sex. As a consequence, the highly influential Hopkins group replaced the then-prevalent "true-sex" policy with an "optimal-gender" policy. (60) In so doing, it adopted the theory posited by its team member, Professor John Money, that nurture, not nature, determined gender identity. (61) According to the theory, if children with ambiguous genitalia were assigned surgically to a particular sex and raised in the concordant gender, and if the relevant gender role was externally reinforced to eliminate any doubts in the children's minds, they would happily develop in, and accept, their assigned sex, irrespective of all other factors including genetic sex and brain sex. (62) Sadly, it depended for its success on deceit: the withholding of information from both the affected children and their parents about the true nature of the condition and its treatment. Such a "doctor knows best" practice of withholding from the patient information deemed prejudicial to their welfare was instituted long ago. None other than Hippocrates, the ancient Greek medical philosopher, instructed physicians that they should "conceal most things from the patient while ... attending to him ... revealing nothing of the patient's future or present condition." (63) The subterfuge engaged in regarding sex assignments in children was, and often still is, justified as being necessary to ensure the unquestioning adoption of the assigned gender that was reinforced by sex assignment surgeries. (64) As Alyssa Lareau points out, however, "the current inability of the medical community to differentiate between truly medically necessary surgery and surgery performed for social and psychological reasons renders even fully-informed parents unable to consent to irreversible and unnecessary cosmetic genital surgery in infants." (65)

The "nurture, not nature" theory was widely published and rapidly gained enthusiastic adherents. (66) The theory became the sole justification in many parts of the world for assignment of sex and gender in genital intersex cases. (67) Early interventional surgery for maximizing the sex-appropriate appearance of the external genitalia was recommended to facilitate gender-appropriate rearing and the sex chosen, at least in part, based on sex role stereotypes. (68) In an XY child the presence of a penis deemed capable of vaginal penetration and standing urination resulted in a male designation whereas its absence led to the child being designated female, their genitalia being surgically altered to approximate that sex with the consequence they were also sterilized. (69) An XX child who was capable of reproducing was typically assigned female irrespective of the appearance of the child's external genitalia. (70) Early on, if the clitoris was thought to be aesthetically too large, it was removed with a consequent total loss of sexual sensation. (71) Later surgeries, however, were at least modified to effect only a reduction in size and an attempt made to preserve the nerve bundles. (72) Thus, "males have been defined by their ability to penetrate and females have been defined by their ability to procreate." (73) Infants with sex chromosome aneuploides (karyotypes other than XX and XY) and ambiguous genitalia typically have been assigned as female. (74)

Surgical expediency, rather than a careful assessment of all other relevant factors, also played its part, and the majority of infants were assigned as females simply because the aesthetic outcome was deemed better; in the crude terms of one urologist, "it's easier to dig a hole than build a pole." (75) The policy was later extended to 46,XY cases with non-hormonal genital abnormalities (76) and continued for three long decades before Diamond and Beh exploded the myth of the "nurtured gender." (77) For some, it was inevitable that their irreversible sex assignment would lead to the personal tragedy of being placed in the wrong body. (78)

At approximately the same time, western society was also coming to terms with the social and legal implications of sex reassignment of people with transsexualism, partly due to extensive media coverage of Christine Jorgensen's 1952 "sex-change." Jorgenson was influenced to seek surgery by Dr. Harry Benjamin, after whom the peak international body of treating professionals has been named. (79) Benjamin considered that "if the soma is healthy and normal no severe case of transsexualism is likely to develop in spite of all provocations" (80) and "intersexes exist in body and mind." (81) Like Hirschfeld, he recognized that humans in early development have an innate sense of their own sexual identity as either male or female independent of the sexual morphology of their reproductive system and chromosomes or the "gender" attributed to them on the basis of their perceived masculine or feminine attributes. (82)

The sad irony for those who were assigned to the wrong sex as a consequence of Money's theories is that, while the mechanisms by which sexual identity is imprinted in the developing fetus and infant child were not comprehended at the time, (83) the fact of its immutability was already accepted as the medical justification for reassignment in cases of transsexualism, (84) a condition also properly regarded as "intersex. …

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