Changing the Nomenclature/Taxonomy for Intersex: a Scientific and Clinical Rationale

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Changing the Nomenclature/Taxonomy for Intersex: a Scientific and Clinical Rationale © Freund Publishing House Ltd., London Journal of Pediatric Endocrinology & Metabolism, 18, 729-733 (2005) Changing the Nomenclature/Taxonomy for Intersex: 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 pseudohermaphroditism, and female 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and note how of intersex types, based on gonadal tissue, is the taxonomy predates and largely ignores the illogical, outdated, and harmful.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- karyotype, 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 .Females: 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 "hermaphrodite". 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 ovaries (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 sexual differentiation 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 hermaphrodites: defined as presenting at Reprint address: least one ovary 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] VOLUME 18, NO. 8, 2005 729 Brought to you by | National Institutes of Health Library Authenticated Download Date | 6/18/19 4:48 PM 730 A.D. DREGER ET AL. 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 gonads. 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 gender 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 'sex 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. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Brought to you by | National Institutes of Health Library Authenticated Download Date | 6/18/19 4:48 PM CHANGING THE NOMENCLATURE/TAXONOMY FOR INTERSEX 731 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
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