© Freund Publishing House Ltd., London Journal of Pediatric & Metabolism, 18, 729-733 (2005)

Changing the Nomenclature/Taxonomy for : A Scientific and Clinical Rationale

Alice D. Dreger1, Cheryl Chase2, Aron Sousa3, Philip A. Gruppuso4 and Joel Frader5

'Program in Medical Humanities and Bioethics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA, 2 Intersex Society of North America, Rohnert Park, CA, USA, 3 Department of Medicine, Michigan State University, East Lansing, MI, USA, 4 Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI, USA, 5Pediatrics, Children's Memorial Hospital and Department of Pediatrics and Program in Medical Humanities and Bioethics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA

ABSTRACT INTRODUCTION

We explain here why the standard division of We present scientific and clinical problems many intersex types into true hermaphroditism, associated with the language used in the existing male , and pseudo- division of intersex types, in order to stimulate hermaphroditism is scientifically specious and interest in developing a replacement taxonomy for clinically problematic. First we provide the intersex conditions. The current tripartite division history of this tripartite taxonomy and note how of intersex types, based on gonadal tissue, is the taxonomy predates and largely ignores the illogical, outdated, and harmful. A new typology, modern sciences of genetics and endocrinology. based on phenotypic presentation, as well as We then note the numerous ways that the exist- , gonadal histology, and etiology, could ing taxonomy confuses and sometimes harms improve diagnosis and management. clinicians, researchers, patients, and parents. The present taxonomy for congenital sexual Finally, we make six specific suggestions regard- anatomies divides humans into five types: ing what a replacement taxonomy and nomen- 1 .: defined as presenting only standard clature for intersex should do and not do, and female sexual anatomy. we call for the abandonment of all terms based on the root "". 2. Males: defined as presenting only standard male sexual anatomy. 3. Female pseudohermaphrodites: defined as pre- KEY WORDS senting some mixture or blurring of standard female and male sexual anatomy with the intersex, hermaphrodite, hermaphroditism, true presence of (and not testes or ovotestes) hermaphroditism, pseudohermaphroditism, nomen- and of an 'XX' chromosomal complement. clature, taxonomy, ambiguous genitalia, disorders 4. Male pseudohermaphrodites: defined as presen- of ting some mixture or blurring of standard female and male sexual anatomy with the presence of testes (and not ovaries or ovotestes) and of an 'XY' chromosomal complement. 5. True : defined as presenting at Reprint address: least one and at least one testis, or at least Alice D. Dreger, Ph.D. one ovotestis. (The definition of true hermaphro- Program in Medical Humanities and Bioethics ditism does not depend on the presentation of Feinberg School of Medicine, Northwestern University other sexual anatomy or the chromosomal 750 North Lake Shore Drive, Room 624 Chicago, 1L 60611, USA complement.) [email protected]

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Textbooks and clinicians today use this presence of ovaries and testes, or ovotestes, taxonomic system, developed approximately 125 regardless of chromosomal complement. years ago, before the development of modern genetics and endocrinology, and well before the current diagnostic techniques and scientific know- THE EXISTING SYSTEM IS NOT BASED ON 'NATURAL KINDS'; ledge of sexual anatomy. The system outlined ALTERNATIVES ARE AVAILABLE above was first presented by Theodor Albrecht Edwin Klebs in 1876, in the Handbuch der The current system, like Klebs', is based Pathologischen Anatomie^. Although Klebs did not primarily on the anatomy of the . Even recognize the existence of ovotestes or chromo- before and for 20 years after Klebs' taxonomy, somes, he was the first to sort hermaphroditisms scientists and clinicians offered alternative taxo- primarily according to the nature of the gonads. nomies which focused on the degree and type of Klebs divided hermaphroditisms into three basic mixture of male and female parts. For example, types: female and male pseudohermaphroditism, Isidore Geoffroy Saint-I Iilaire divided hermaphro- defined as above but without the chromosomal dites into sexually ambiguous people with extra criteria, and true hermaphroditism, defined as parts and sexually ambiguous people with the usual presenting with at least one ovary and at least one number of parts3. These alternative systems did not testis. favor the use of gonadal anatomy above all else for Klebs' system was widely accepted and demarcation purposes as Klebs did. disseminated among the biomedical professions In other words - and this point is critical - the after George F. Blacker and Thomas William current taxonomy does not represent a division into Pelham Lawrence published their text on the what philosophers of science call 'natural kinds'. subject in the Transactions of the Obstetrical Nature does not tell us the existing system is the Society of London in 18962. Blacker and Lawrence, one and only way to view sexual anatomies. recognizing the existence of ovotestes and critically Instead, the existing, quite arbitrary system was reviewing* the record of supposed cases of true developed and adopted for pragmatic reasons. It hermaphroditism, endorsed Klebs' basic division seemed to sort confusing and sometimes disturbing into the five anatomical types. anatomies into clear types, and thereby seemed to Clinicians thereafter rallied around this gonadal make sense of confusing presentations4. It gave a division. They came to sort all patients into cate- central position to gonadal histology, at the time a gories according to gonadal anatomy, regardless of fashionable (though vague) explanation for their phenotypic presentation and regardless of the and sexual behavior. The existing taxonomic functionality of their gonads. system may once have been useful, but it does not represent the only, the most logical, or even the most natural taxonomy. THE CONTINUED PRIVILEGED ROLE OF GONADAL ANATOMY IN THE EXISTING SYSTEM WHY THE EXISTING SYSTEM One might presume that the present system, as NEEDS TO BE REPLACED outlined earlier, differs from Klebs' or Blacker's and Lawrence's systems, as it seems to recognize, A system that emphasizes gonadal anatomy at least in the cases of female and male pseudo- above all else suffers from two major deficits. First, hermaphroditisms, the importance of chromo- it is scientifically questionable, because it relies on somes. However, the discovery and understanding the anatomy of the gonads (functioning or not) of ' chromosomes' did not substantively alter more than any other considerations. Second, it the earlier taxonomic systems. Indeed, the existing provides little clinical help, often confusing and division does not depend on chromosomes, because harming the patient, and sometimes also the it still defines 'true' hermaphroditism as the physician.

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SCIENTIFIC PROBLEMS WITH CLINICAL SHORTCOMINGS OF THE EXISTING SYSTEM THE EXISTING SYSTEM

Why has such an outdated system not been When they developed and disseminated it, 19th discarded and replaced? The scientific under- century thinkers apparently expected the taxonomy standing of sexual development has progressed of Klebs to function clinically and socially, as well tremendously in the last 125 years, but the existing as scientifically. They assumed that sexually taxonomy does not reflect that progress. Scientists ambiguous patients with testes ('male pseudo- and clinicians now recognize that the structure of hermaphrodites') could be scientifically, clinically, the gonads does not correlate simply with genotype, and even socially labeled male. Indeed, the system phenotype, physiology, diagnosis, or gender identity. was designed to clear up social problems caused by The anatomy of testicular tissue in women with sexual ambiguity through offering a method to androgen insensitivity syndrome (AIS) is quite separate males from females according to gonadal similar to the anatomy of testicular tissue in non- anatomy. However, modern diagnostic techniques intersex males, yet their physiologies, phenotypes and understanding of conditions such as AIS show and gender identities differ markedly. Many people that, for example, in AIS, a woman with un- with so-called true hermaphroditism have ovo- remarkably feminine appearance could have testes. testes, yet their genotypes, phenotypes, physio- As early as 1915, clinicians began to recognize logies, and gender identities vary considerably that Klebs' taxonomic system sometimes caused more than their single categorization implies. To clinical and social problems, rather than solving continue to use rhetoric suggesting that gonadal them. In increasing numbers of cases, the sex anatomy is the most important marker or is a assignment suggested by the gonadal taxonomic simple marker of sex type denies the full breadth of system conflicted with the external phenotype and our current scientific knowledge. the social gender assignment. Clinicians then began In fact, many more physiologically-specific an awkward habit of trying to categorize patients diagnoses of intersex conditions have been according to two, often conflicting, systems: based developed since Klebs' system was proposed 125 on the patient's gonads, they would categorize the years ago. 'AIS' is a more scientifically specific patient in Klebs' 'sex' system; based on the and useful diagnosis than 'male pseudohermaphro- patient's phenotype, they would categorize the ditism', the blanket term into which AIS is still patient in a gender system. Often a patient wound fitted. 'Gonadal dysgenesis' is a scientifically up 'scientifically' labeled a 'male pseudoherm- specific and useful intersex diagnosis that does not ' but socially labeled 'girl' or 'woman', or even fit into the five-item categorization scheme in vice versa. current use. This conflict of labels - a conflict caused at least When researchers and clinicians use the broad in part by the gonadal taxonomy - put clinicians in categories first described by Klebs, instead of more an awkward position. Many realized that diffe- specific diagnoses, such as AIS and gonadal dys- rences between supposed 'sex' (male pseudoherm- genesis, accurate research and literature searching aphroditism, female pseudohermaphroditism, or become much more difficult. This is not a minor true hermaphroditism) and gender could cause issue. If researchers want to conduct sound studies distress for patients. Some clinicians tried to avoid and clinicians hope to use evidence generated by the conflicts by not revealing to patients their true such research, the nomenclature must allow sorting diagnoses. In a practice now widely criticized, they patients into diagnostically meaningful groups; the withheld diagnostic information or actually de- present system simply does not achieve this end. ceived patients in the belief that patients would be harmed by knowing of the conflict of labels5. Others believed that early cosmetic surgeries were necessary to 'resolve' the conflict, to bring the anatomical sex as much in line with the gender assignment as possible. This led to many early-

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childhood surgeries that patients (and then many conditions are confronted with social and sexual clinicians) later regretted6. issues at many developmental stages over the Despite the fact that the 5-sex taxonomy is not course of their lives; a patient's understanding of based on natural kinds, clinical practice has often her condition will be strongly affected by labels she followed it, creating conflicts and confusion that encounters in her own medical record or in medical may produce unintended ill effects. The mismatch journals and texts. between taxonomy and modern science and the Third, the use of a Klebsian system has typically clinical misdirection that flows from continued use led to the labeling of the whole person according to of the outmoded taxonomy strongly suggest the the condition ('male pseudohermaphrodite'), rather need to develop an accurate classification system than naming a condition a person has ('male for intersex that avoids labeling conflicts and pseudohermaphroditism'). This subtle but critical permits clear and sound communication with distinction is similar to the difference between families and patients. labeling a person a hemophiliac and labeling him a person with hemophilia. The former reduces the person to the condition; the later recognizes the ADDITIONAL RHETORICAL PROBLEMS condition as but one aspect of the person. WITH THE EXISTING SYSTEM Finally, the division into 'pseudo-' and 'true' First, the rhetoric of the existing system centers forms of hermaphroditism implies a hierarchy of around the term 'hermaphrodite', a term which authenticity, whereby one person has a fake form of originally signified - and still signifies to many intersex and another a real form. This pseudo/true people - a person with two full sets of genitals and division is a hangover from the gonadal demarca- sex organs, male and female. This continued tion system. However, a technical 'true herm- reference to what only exists in mythology frightens aphrodite' may present far less ambiguity than a and confuses many non-professionals, including technical 'pseudohermaphrodite'. It is unhelpful patients and their families. In addition, it attracts and harmful to patients to use loaded prefixes the interest of a large number of people whose 'pseudo-' and 'true'. The same problem pertains interest is based on a sexual fetish and people who with terms like 'sex reversal', which implies an suffer from delusions about their own medical original 'true' sex, and can confuse physicians, histories. This unwanted attention can rise to a level parents, and patients alike. that interferes with the work of support groups and clinicians. TOWARDS A NEW TAXONOMY Second, the system labels people as male or female simply based on gonadal anatomy. This The clinical approach to intersex should aim to distresses many patients who hear science labeling use methodologically sound evidence to facilitate them as a sexual type with which they do not the development of healthy and happy patients. otherwise identify. One of the authors (AS) has had Continued use of the existing system for dividing the experience of having to calm an adult patient intersex types ignores modern science and, as after an internal medicine resident announced to her currently used, inadvertently undermines the central that she was 'really' a man, because he had found goals of the clinical treatment of intersex. A new testes in the patient. What use is there in calling a system is needed. woman with AIS a 'male', when her external What should the new system look like? The phenotype and her gender identity are female? answer to this question will depend on what Neither patients nor clinicians benefit when the patients and clinicians decide they need. If physi- clinician has to try to explain to a woman with AIS, cians feel that help guide the diagnostic "You are a male pseudohermaphrodite but you're work-up, then chromosomal analysis might form really a woman." The implications of nomenclature the basis for taxonomical division; unfortunately, do not end with the pediatric endocrinologist's or karyotyping has the same tendency to confuse urologist's diagnosis. Most patients with intersex physicians and patients, many of whom do not

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Brought to you by | National Institutes of Health Library Authenticated Download Date | 6/18/19 4:48 PM CHANGING THE NOMENCLATURE/TAXONOMY FOR INTERSEX 733 understand the relationship between 'sex chromo- specific etiology-based diagnoses (such as AIS, somes' and clinical phenotype and gender identity. 5a-reductase deficiency, etc.) and the umbrella We propose that clinicians should work to term "disorders of sexual differentiation". Such an articulate their needs and to develop, using approach would have the salutary effects of scientific evidence and patients' experiences and improving patient and physician understanding and advice, a taxonomic system which specifically and reducing the biases that are inherent in the use of effectively addresses those needs. the current language of 'hermaphroditism'. As a starting point, we suggest that the replacement taxonomic system: • should enhance, not complicate, the use of REFERENCES medical informatics in research and clinical 1. Klebs E. Handbuch der Pathologischen Anatomie. practice; Berlin: Α. Hirschwald, 1876; see vol. 1, p. 718. • should recognize that diagnosis and taxonomy 2. Blacker GF, Lawrence TWP. A case of true unilateral inform, but do not determine, gender assignment hermaphroditism with ovotestis occurring in a man, with a summary and criticism of the recorded cases of true and/or gender identity (thus, should avoid the hermaphroditism. Trans Obstet Soc Lond 1896; 38: 265- words 'male' and 'female'); 317. • should not include the words 'hermaphrodite', 3. Saint-Hilaire IG. Histoire Gönerale et Particulifere des 'hermaphroditism', 'sex reversal', or other easily Anomalies de l'Organization chez l'Homme et les Animaux...ou Traite de Teratology. Paris: J.-B. misunderstood terms; Bailliere, 1832-36; vol. 2, p. 36. • should label the condition rather than the person; 4. Dreger AD. Hermaphrodites and the Medical Invention of Sex. Cambridge, MA: Harvard University Press, • should not confuse physicians and patients; 1998; chap. 5. • should make clear that diagnosis does not simply 5. Chase C. Affronting reason. In: Atkins, D, ed. Looking dictate therapy. Queer: Image and Identity in Lesbian, Bisexual, Gay and Transgendered Communities. Binghamton, NY: Haworth, In conclusion, we suggest the language of 1998. 'hermaphroditism' and 'pseudohermaphroditism' 6. Chase C, director. Hermaphrodites Speak! Intersex be abandoned. One possible alternative to the Society of North America, 1997. Video available from Procrustean 5-sex approach is to use instead www.isna.org.

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