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XX male syndrome

XX male syndrome (also called de la Chapelle syndrome) is a rare sex chromosomal disorder in man. Usually it is caused by unequal crossing over between X and Y chromosomes during meiosis. Symptoms include small testes, gynecomastia and sterility. more...

X-linked adrenal...
X-linked ichthyosis
X-linked severe combined...
Xeroderma pigmentosum
XX male syndrome
XY Female

Men typically have one X chromosome and one Y chromosome in each cell of their bodies, other than sperm cells. Women typically have two X chromosomes. XX males have two X chromosomes, but otherwise appear to be male.

There are a number of other syndromes related to the karyotype of the sex chromosomes, such as XYY syndrome, Turner syndrome (patients have one X and no Y chromsome), Klinefelter_syndrome (patients have two X chromosomes and one Y), XXX syndrome (patients have three X chromosomes), etc. See the list of genetic disorders


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Intersex—fact or fiction?
From Journal of Sex Research, 5/1/05 by Heino F.L. Meyer-Bahlburg

Intersex and Identity. The Contested Self. By Sharon E. Preves. Rutgers University Press, 2003, 215 pages. Paper $22.00; Cloth $60.00.

Over the past decade, intersexuality and its clinical management has become a salient issue for debate, not only in respective medical circles, but even more so in Gender Studies and related programs in the Humanities. Sharon Preves, currently an Assistant Professor of Sociology at Hamline University in St. Paul, MN, comes out of the latter tradition. This book is based on her 1999 doctoral dissertation in Sociology, but written for a wider audience.

The core of the study comprises data from qualitative interviews with 37 adult persons with intersexuality by which the author wants to explore "what happens to people who [...] inhabit bodies whose very anatomy does not afford them an easy choice between the gender lines" (p. 2). The primary focus of the interview guide (p. 162) was on identity and social support, and considerable attention was also paid to the issue of stigma in the qualitative text analysis.

Chapter 1 ("Beyond Pink and Blue") anchors the project in contemporary gender studies as represented by Anne Fausto-Sterling, Judy Butler, Suzanne Kessler, Wendy McKenna, and Harold Garfinkel, in the broader context of Charles Horton Cooley's and George Herbert Meade's theories of the self, and in symbolic interactionism, especially its application by Irving Goffman to the development of a stigmatized identity. Chapter 2 provides some background material on medical aspects of intersexuality and its clinical management. Chapter 3 focuses on stigma, secrecy, and shame as experienced by the intersex person, particularly in interaction with medical management. Chapter 4 ("Seeds of Change") deals with ways (such as political activism) by which intersex persons have overcome stigma; it posits a three-stage coming-out process, and looks into the role of support groups. Chapter 5 ("Intersex Pride") describes two additional stages of the coming-out process, namely, developing pride in one's marginality, and integrating one's marginal identity within a larger sociocultural context.

Chapter 6 formulates implications for the theories of gender identity and performance, Goffman's work on stigma, social movements and identity formation, and for clinical reform. Chapter 7 is a methodological appendix, followed by Notes, Glossary, References, and Index. Thus, the book addresses many issues that are important to persons with intersexuality and the broader audience of those who analyze matters of gender. The author has an animated and fluid writing style, richly associational, drawing on both material from the research literature and quotes from the qualitative interviews, which makes for easy reading.

Preves intended "to conduct effective and ethical qualitative feminist research," "aiming to transform 'inequitable social arrangements' through [her] work" (pp. 171-172). The book clearly reflects some of the hallmarks of contemporary gender activism: a chiaroscuro world of quasimanichaeic dualism of good and evil, with medicine cast as the evil whose procedures are "performed to maintain social order for the institutions and adults that surround that child" (p. 12) and John Money, "the now infamous harbinger of the current medical paradigm" (p. 150), as the arch villain; the intersexed patients as both victims of medicine and martyred heroes of the struggle for a gender-free world; "contemporary Western gender binarism" (p. 41) contrasted with a mythical paradise of non-Western worlds peopled by various categories of third-gender beings or other variants of non-binary categories of gender; and with its own analog of Rousseau's idealized "noble savage," namely, the blissful intersexed person with unoperated ambiguous genitalia. Empathetically, the author suggests victimhood on her part as well, as she, too, "experienced medical interventions upon [her] body in early childhood with multiple medical visits, genital examinations, and urethral surgery, secondary to chronic urinary tract infection in early childhood" (pp. 160-161), although in her case there was clearly a medical indication for surgery.

As a piece of behavioral science, the book constitutes more of a problem. The study sample of 37 participants includes ten persons with complete androgen insensitivity (CAIS), five with partial androgen insensitivity (PALS), four women with CAH, two women with progestogen-induced clitoromegaly, one each of Klinefelter's syndrome in a male and Turner's syndrome in a female, six miscellaneous patients including gonadal dysgenesis, micropenis, true hermaphroditism, and at least two with hypospadias, plus eight for whom the diagnosis is unknown. The author argues that this constitutes theoretical sampling (p. 165) with the intention of including a diversity of "intersex conditions, expecting to find similarities among a given type of intersex as well as significant differences across physiological variation" (p. 166). However, I could not find any systematic attempt to demonstrate either, and the small number of persons in the various categories would not permit analysis of such in any case.

In addition, the author sought diversity in geography (the subjects come from 19 U.S. States and Canadian Provinces), age (range 20-65 years, average 40 years), race and ethnicity, sex of assignment, social class, and outlook about what it means to be intersexed. In regard to social class, the demographic data make clear that the sample is heavily biased towards higher social class: "96% have at least some college education" (p. 8), and in regard to ethnicity/race, only 11% of the sample was Latino/a, Asian/Pacific Islander, Native American, or biracial (which means n = 1 for each of these categories; p. 9).

Given that the diagnostic categories are based on self-report without backup by medical documentation, one cannot be sure that all people really represent the category to which they were assigned in the study. In such medical categories as AIS, even the medical diagnosis of record is sometimes incorrect if checked with contemporary methods. As is so often the case in small-scale qualitative studies, the sampling for diversity is difficult to document because the population characteristics of hidden populations are often not well described, so that it is difficult to say how the diversity of a given sample compares to the diversity of traits under consideration in the population. Moreover, given the foci of Preves' project, diversity sampling does not seem to have been directed explicitly at the variables of maximum interest such as severity or degree of the genital ambiguity (in most cases here not documented at all), surgical status (this sample includes only two unoperated cases), and gender of rearing relative to karyotype (this sample apparently does not include a 46,XX raised male and only very few 46,XY raised male). Another sampling problem is that the primary recruitment was done through support groups. In fact, several of the participants are key activists from the Intersex Society of North America (ISNA) whose public testimonials are well-known from ISNA's newsletter, website, and related publications.

It appears that genuine sampling (i.e., selection of subjects from a defined sampling frame) has not taken place in any case. Instead, the 37 participants represent almost the entire number of respondents to 75 recruitment packets that were distributed through leaders of intersex support groups (p. 167). In addition, as typical for qualitative publications, the utilization of material appears to vary tremendously between subjects. Of approximately 165 citations in the text, 16% were provided by two of the participants; the least frequently quoted half of the sample (18 people) provided only 27% of the citations. This would not matter much if the author had just used this material either for hypothesis gathering as a starting point for future systematic research, or as a formative stage for constructing systematic assessment instruments. However, the tone of the book suggests substantive findings rather than hypotheses and its conclusions, therefore, appear to go way beyond what is defensible on the basis of these data.

The problems of such sampling can be illustrated in various ways. For instance, the participant labeled "Tiger" is clearly recognizable as the poster hypospadiac among the ISNA activists. He has suffered through sixteen genital surgeries related to the hypospadias condition and understandably is very critical of corrective surgery for hypospadias. However, he is an extreme example of a past generation of medical patients when compared to current figures as to the number of genital operations per hypospadias patient and their outcomes with current surgical techniques. Moreover, his condition appears to be a severe form of simple hypospadias which commonly is not included under the rubric of genital ambiguity. It is, therefore, questionable whether he should have been included in this intersex sample at all.

Another example is 62-year-old Jana, the only representative in this study of Klinefelter's Syndrome, which typically is also not associated with genital ambiguity, but, extremely variably, with adverse effects on diverse somatic, neurological, and behavioral systems. These associations are not mentioned by the author, nor is the participant characterized in this regard.

Similar to the overall non-systematic style of case selection and selective quoting of participants is the author's use of the literature. An example is the issue of stigma. The author does not seem to be aware that stigma is one of the issues in response to which the Hopkins Policy was formulated, in part. I agree with her conclusions that the way in which the Hopkins Policy was put into practice in other places using their own modifications sometimes did not diminish stigma and may even have exacerbated it. How frequent that is, we do not know, and, given the source and mode of sampling, I rather doubt that the author's data give us an accurate idea. I find it particularly regrettable that the author uncritically joins those who simply condemn the prevailing management policy without carefully examining its origins and the writings of its authors. For instance, the Hopkins group has clearly addressed the issue of stigma in the form of undue peer curiosity and ridicule and neighborhood gossip from early on (e.g., Money, Hampson & Hampson, 1955, p. 295; Hampson, Money, & Hampson, 1956, p. 555), and Money has also examined the potential adverse consequences of genital exams (Money & Lamacz, 1987).

In comparison to her critical stance vis a vis medicine, Preves is entirely uncritical with regard to self-descriptive statements of study participants. Given everything we know about long-term memory, especially reaching back to events of childhood, and about the interviewing process (Stone et al., 2000), does she really believe that participants' self-statements can be taken as absolute fact, particularly when given in the context of a political activist movement? It seems that it is more important for the author to present a cohesive and persuasive activist narrative rather than a critical examination of various positions in light of whatever evidence there is for their applicability and validity.

A particularly troublesome illustration of the anything-goes attitude regarding data is Chapter 2 on medical background, which is beset with gross biological errors. According to the author, mullerian ducts "form into ovaries" ..., Wolffian ducts "form into testicles" (p. 23). She seems to be unaware of the complex cascade of multiple genes involved in gonadal differentiation and ascribes the whole process to one "gene" (sic!), the SRY (pp. 2526). Male sexual differentiation comes about, "via the introduction of androgens ("male" hormones) to the neonate" (sic!). The author is also not familiar with the role of multiple isoenzymes involved in the developmental course of 5"-reductase-2 deficiency. Thus, while boldly offering an "Intersex 101," she seems unfamiliar with some of the basic vocabulary and crucial biological facts.

Similarly inappropriate from a science perspective is the inflationary numbers game the author plays, as it is widely done in this particular literature. When she introduces her sample in Chapter 2, she does not present the raw sample sizes, but only talks in percentages, e.g. "3% of those I interviewed had Klinefelter's syndrome" (which denotes n = 1 person, p. 30). Or, "5% of participants had enlarged clitorises" (denoting n = 2 participants, p. 31), thereby obfuscating the very small subsample sizes. Similarly, a phrase such as "the recent mobilization and activism of thousands of intersexuals worldwide" (p. 154) sounds overstated, given the small numbers of such people who give public lectures, are present on videotapes, or engage in lobbying efforts and demonstrations.

Gross inaccuracies in medical background facts, selective uncritical quotations from the literature, and lack of awareness of methodological problems unfortunately detract from the potential value of this book. In particular, these deficiencies undercut the intent to reach those the author would like to reform, namely, the physicians in charge of clinical programs. If medical data are so poorly handled and methodological issues disregarded, how can one trust the psychological findings and conclusions? Current medical policies are unlikely to be revised unless such revisions can be evidence-based, but this book is far from providing acceptable evidence.

As this book is based on a doctoral dissertation, a product of graduate university training, and is published by a university press, it illustrates the sorry state of academic standards to which some branches of the Humanities have sunk. Clinicians trained in the science/practitioner model of the American Psychological Association are exhorted to carefully separate raw descriptive observations from clinical impressions in their reports. Behavioral scientists typically obsess about theoretical constructs versus their operationalization, the external and internal validity of design, and the psychometric quality criteria of their assessments. This book is devoid of the crucial conceptual and methodological sensitivities of the scientific process. Thus implemented, little separates postmodern feminist gender studies from Nazi-German physics, Soviet genetics, psychoanalytic psychiatry, fundamentalist creationism, and faith-based sexology.

Shouldn't we expect that graduate university training is more than agitprop preparation and combines social political consciousness with conceptual rigor and methodological sensitivity? In this case, both the author's university department as well as the university publishers seem to have abdicated their responsibility of having trainees and authors meet minimum standard of scientific performance. With better supervision, this intelligent and engaged author could have produced a much more solid and effective document which would have better served her target community.


Hampson, J. G., Money, J., & Hampson, J. L. (1956). Hermaphrodism: Recommendations concerning case management. Journal of Clinical Endocrinology and Metabolism, 16, 547-556.

Money, J., Hampson, J. G., & Hampson, J. L. (1955). Hermaphroditism: Recommendations concerning assignment of sex, change of sex, and psychological management. Bulletin of the Johns Hopkins Hospital, 97, 284-300.

Money, J., & Lamacz, M. (1987). Genital examination and exposure experienced as nosocomial sexual abuse in childhood. Journal of Nervous and Mental Disease, 175, 713-721.

Stone, A. A., Turkkan, J. S., Bachrach, C. A., Jobe, J. B., Kurtzman, H. S., & Cain, V. S. (Eds.) (2000). The science of self-report. Implications for research and practice. Mahwah, NJ: Lawrence Erlbaum Associates.

Reviewed by Heino F. L. Meyer-Bahlburg, Dr. rer. nat., New York State Psychiatric Institute and Department of Psychiatry, Columbia University, New York, NY 10032; e-mail:

COPYRIGHT 2005 Society for the Scientific Study of Sexuality, Inc.
COPYRIGHT 2005 Gale Group

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