About a decade ago, a spate of articles were published that reviewed and criticized the overall management of newborns with intersex conditions.1,2 These articles stimulated critical examination of the broad area of intersexuality and of its management. The following three specific recommendations were made: stop all infant cosmetic genital surgeries until evidence-based medicine proves their necessity; conduct research to assess whether such surgeries are justified; and practice complete honesty when advising parents and patients about intersex conditions. Further recommendations included the caution that a small or absent penis alone should not justify male-to-female sex reversals. Suggestions on management principles (made on the basis of the knowledge available at that time) were also offered.3 In this Viewpoint we review whether practices have changed in response to these early recommendations.
The call for a moratorium on all cosmetic genital surgeries certainly has not been realized; however, there is now a slower and more judicious approach to the decision to perform sex-assignment surgery. The practice of recommending sex reversal solely on the basis of a small or absent penis has been appreciably reduced, and most investigators now consider that males with micropenis or cloacal exstrophy should be raised as males.4 The decision to preserve female fertility is (without rationale) nonetheless still given more weight than that to preserve male fertility.5 This difference might be because physicians and parents believe that motherhood is more important to females than fatherhood is to males.
Fine distinctions are also being drawn during decision-making, and this process has also led to increased caution. For example, we now know that cases of complete androgen insensitivity syndrome and partial androgen insensitivity syndrome must be regarded differently.6 Although individuals with complete androgen insensitivity syndrome usually accept lives as a female, those with partial androgen insensitivity syndrome might change gender identity as they mature. Individuals with partial androgen insensitivity syndrome who are originally assigned as male can do well as males or can elect to live as women. Those with the partial condition, if assigned as a female, can elect to live as a male.
Although originally called for, to date only a small number of follow-up studies have been performed to assess outcome of gender assignment, and many challenges remain. Information about gender identity and about sexual and erotic function cannot be easily determined until decades after surgery, and many patients are lost to follow-up. Valuable information has nevertheless become available. For example, studies on infants with masculinization of the clitoris as a result of congenital adrenal hyperplasia have provided data about the negative outcomes of clitoral reduction. Adult women who had feminizing genital surgery as infants have reported poorer sexual function and less sexual satisfaction than individuals who did not undergo this procedure.7 There is no reason to suspect that these data on loss of sensation following childhood clitoral surgery for congenital adrenal hyperplasia cannot be generalized to genital surgery for other intersex conditions. In addition, vaginal reconstruction in infants typically requires repeat surgery and repeated vaginal dilations. These procedures, like those on the clitoris, might be postponed until the affected individual herself can decide on the potential value of the surgery.
Debate continues about whether parents should be charged with making surgical decisions that might otherwise be postponed until the child can decide for himself or herself.8 Although many clinicians adhere to the view that parents should make surgical decisions on behalf of their infants, it must be acknowledged that parents could have objectives and perspectives that differ from what the infant might eventually desire as an adult. All groups involved in care of the child are seeking comfortable resolution of these surgery-related concerns of parents, physicians, and intersexed persons.
The suggestion that both patients and parents should be given full and complete information with utmost honesty challenged the belief that candor would damage the parent-child bond, and eventually cause psychological damage to the maturing patient. We now know, however, that the shame and stigma that secrecy and deception breed could be more psychologically scarring than the truth.6 Deception and mendacity are neither medically ethical nor legally defensible.9 Ignorance is rarely better than knowledge, and people deserve reliable information with which to make meaningful life decisions. There is increasing realization amongst professionals that secrecy and failure of disclosure at an early stage might be associated with long-term psychological distress.6
We have also gained a heightened awareness of the psychological harm that results when intersex conditions are pathologized. Although we are now more sensitive to the damage that might inadvertently be caused by characterizing individuals as medical conditions rather than as people, no consensus has emerged as to how to ameliorate the harm. A consortium of concerned professionals decided that, in order to reduce the stigmatization that frequently accompanies intersex conditions, the nomenclature used in such cases should be altered. The consortium suggested that the term “disorder of sex development” should be substituted for “intersex” and for “intersex conditions”;10 however, other parties have suggested that this terminology is no less stigmatizing than many other terms that have been offered, such as “defective differentiation of the genital system” or “sex errors”. The largest intersex support group in the world—Organisation Intersex International—considers such terms negative, supports the use of nonstigmatizing expressions such as “variety of sex development”, and would probably support the term “differences of sex development”, which we now prefer. These terms acknowledge the variations inherent in intersex conditions, but also respect the notion that individuals are being portrayed rather than just medical disorders. Affected individuals seek recognition of their personhood and eschew labels of defect, disorder, or disadvantage. They recognize that parents, psychologists, counselors, and other individuals who might also use the term agreed upon would bridle at any designated term that could be construed as demeaning.
One of the original suggestions made a decade ago that has been generally adopted (at least in tertiary care facilities) is that a multidisciplinary group of specialists should be used to assist in cases of doubtful diagnosis.3 This approach reduces the chances of error and aids in management decisions. Physicians in small facilities should be quick to call in specialists to assist them, or to refer the case to a designated facility. Nonetheless, a contentious issue remains: how should the multidisciplinary team be managed? The best solution might be for each group to select as leader the specialist who demonstrates the greatest level of knowledge of the condition combined with the most compassionate bedside manner.
Another of the original suggestions that has been accepted but needs stronger implementation is the need for counseling in all instances.3 Parents need support and counseling at the time of diagnosis. Many intersex conditions are not discovered at the time of birth but at puberty or even after maturity, and can present with complicated and traumatic signs. The affected individual, therefore, deserves initial and repeated counseling to deal with life changes involved.
In conclusion, it is clear that much progress has been made in the past decade in the management and treatment of intersex conditions; however, there is still much that remains to be done.