Rashad Rehman and Darius J. Bägli draw on the example of congenital adrenal hyperplasia in order to outline appropriate uses of the term “disorder” versus “difference” of sexual development.

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As discussed in our previous commentary, the 2006 Chicago consensus statement on disorders of sexual development was criticized because the use of “disorder” was perceived to be pathologizing, as well as stigmatizing, medicalizing, and medically inaccurate (for a summary and assessment of such criticism, see this article by Rehman). A disorder of sexual development was defined as “a congenital condition of disordered gonadal sexual development based on discordant chromosomal, and phenotypic/anatomical sex, involving abnormal and ambiguous i.e., indiscernibly male or female, genitalia/genital anatomy.”

While the motivation for using “difference” instead of “disorder” is rooted in beneficence, medically inaccurate terminology can compromise optimal clinical care and would be inappropriate in cases of actual disorder. As such we propose to revisit the meaning of, and motivation for the use of, “disorder” in the 2006 Consensus statement. To perform this task, we use as a case study the most common disorder of sexual development, congenital adrenal hyperplasia (CAH). CAH comprises upwards of 60-70% of disorders or differences of sexual develpment. CAH results from various genetic defects often lying beyond the sex chromosomes that affect the production of the enzymes required to produce steroid hormones. This often results in critical underproduction of key stress and salt-controlling steroids and overproduction of androgens, leading to subsequent development of a spectrum of male-typical physical characteristics (virilization) in females with an otherwise normal 46,XX karyotype.

Photo Credit: Creative Commons. Image Description: A Caduceus Symbol.

Four years after the publication of the 2006 Consensus statement, researchers pointed out that “many of these conditions [disorders of sexual development] can be traced to gene mutations causing pathophysiological consequence … This is not dissimilar to other commonly recognized diseases such a sickle cell disease or cystic fibrosis. These are therefore not variations in normal function but abnormally affect physiology”.

Medical disorders are characterized by pathophysiologies with negative functional consequences for health. In the case of CAH, the enzymatic defect in CAH can be fatal if not treated lifelong with medication. Some female patients with CAH have anatomies in this area that can lead to painful or obstructed menstrual flow that must be managed. 

The argument in favour of the terminology of “differences” (rather than “disorders”) of sexual development focuses on the fact that individuals with CAH might fail to meet social standards of anatomical normalcy. For example, they might have variously ambiguous genitalia, a larger than average clitoris, a lack of separate urinary and gynecological channels, or a labia that resembles a scrotum. In many cases, the terminology of “difference” rather than “disorder” is appropriate. However, in other cases the “disorder” nomenclature is justifiable. An individual with CAH justifiably has a medical disorder because of the biological pathophysiologies with negative functional consequences involved in CAH.

There are two clinical implications of our proposal regarding “disorder” versus “difference”. First, our proposal holds that healthcare professionals can and should use and apply medically accurate diagnostic nomenclature (i.e., in the present context “disorder”) while at the same time appreciating that social standards of normalcy do not dictate that an unexpected external genital appearance is itself “disordered.” This approach justifies the use of both “disorder” and “difference”. Explaining how a child harbours a biological disorder but that the child as a person is not “disordered” depathologizes them.

Second, our proposal spearheads and elevates continued patient-centred care for individuals with disorders or differences of sexual development by emphasizing the need for individualized treatment, not only with respect to relevant application of the words “disorder” or “difference”, but explicitly addressing in what sense their condition presents a “disorder” (if at all). To move forward, the acronym “DSD” (disorder of sexual development) as a term could be reimagined as D2SD or DDSD, one possibility that may serve as a reminder to all who use the label.

In sum, our proposal accommodates the need for both an explicit rejection of pathologization as integral to patient-centred care, as well as to prioritize medically accurate diagnostic terminology in healthcare. In the last post it was highlighted how patient perspectives regarding their “differences” and “disorders” challenged pathologization, and what we have now shown is that depathologization need not require giving up medically accurate diagnostic terminology. Heading towards a depathologized future, the lesson we draw is that how and why we use “disorder” and “difference” does indeed make a difference.

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Rashad Rehman is Assistant Professor of Philosophy at Franciscan University of Steubenville, OH.

Darius J. Bägli is a senior Pediatric Urologist and Investigator at The Hospital for Sick Children and Research Institute, and Professor of Surgery and Physiology at the University of Toronto.