Medical decision-making and the child with a DSD

Perhaps the first question isn’t what to decide, but who should decide.

As the director of an agency that advocates for children with disorders of sex development, I speak frequently with physicians, psychologists, attorneys, adults with disorders of sex development and parents of affected children.

In this and future columns, I will draw on these perspectives to explore legal and bioethical issues related to DSDs, but with broader implications. This column explores questions of decision-making and authority.

Since the mid-90s, when patient activists have raised sharp public critiques of procedures they had undergone as infants, controversy has flourished about the proper treatment of children born with DSDs. These conditions, which include virilizing congenital adrenal hyperplasia, androgen insensitivity syndrome, 5-alpha reductase deficiency, cloacal exstrophy and hypospadias among others, frequently involve “ambiguous” or atypical genitalia and gonads that are discordant with the sex of rearing. For over 50 years, genitoplasty and gonadectomy in early childhood have been common treatment practices for children with DSDs. But about 15 years ago, dissatisfied adult patients began to come forward about negative outcomes they had experienced, including problems with sexual function, incorrect gender assignment and lifelong struggles with depression and shame. These complaints threw doubt on the existing surgical treatment model.

Anne Tamar-Mattis

Eventually, some providers stopped recommending early elective genitoplasty and gonadectomy, citing the unknown impact on sexual and psychological function and the lack of evidence-based studies demonstrating any benefit. Others argued against changing the standard of care, noting that there is also no rigorous evidence base supporting such a change and raising questions about the psychological impact of atypical genitals in early childhood. Still others sought a middle ground, becoming more conservative in their recommendations, although with varying and sometimes conflicting criteria.

The debate about surgical treatment of DSDs continues to rage in the pages of medical journals and the popular press. The National Institute of Health calls the situation “a crisis in clinical management.” Even the recent international consensus statement on treatment of DSDs contains no clear guidelines for undertaking genitoplasty. The one point of agreement is the need for more data. However, there are barriers to meaningful study, many patients have been lost to follow-up and it will take decades to establish the effect of recent surgical advances on adult sexual function and overall well-being.

What is the right decision?

Of course, everyone involved in the care of children with DSDs wants to make the best possible decisions. Unfortunately, there are no clear answers to the many questions raised in considering early elective surgery. Which is worse: the possibility of a childhood of cruel teasing by peers, or the possibility of an adult life without full sexual function?

The risk of surgically reinforcing the wrong gender assignment, or the impact of atypical genitals on sexual identity development? A risk of testicular cancer, or the certainty of a need for exogenous hormones if gonads are removed? Does early genitoplasty spare the child stigma as some proponents claim, or cause feelings of stigma and shame as some former patients claim? What is “normal” sexual identity development, anyway? How does it relate to overall health and well-being?

While specialists struggle to find answers, children with DSDs continue to be born. Practitioners must respond without clear, evidence-based guidelines. Where the stakes are so high and there is little agreement about what is the right decision, it makes sense to attend to the process of decision-making: to start, who should make this difficult decision?

Who decides?

Historically, physicians made decisions about surgical treatment of DSDs, often without consulting parents. Many thought parents would not accept their infant if they felt uncertainty about the child’s sex. In fact, until fairly recently, treating physicians routinely concealed details of diagnosis and treatment from parents. This is no longer considered ethical practice.

Under the modern informed consent framework, most medical decisions for children are made by parents in consultation with physicians. In practice, the amount of information provided and the degree of physician directiveness can vary widely when considering surgical treatment of DSDs. Nonetheless, most providers and lay people assume that some variation of “physicians inform and parents decide” is the appropriate process.

In the case of DSDs, however, this assumption calls for re-examination. While parents can clearly authorize medically necessary procedures, such as primary bladder repair in cloacal exstrophy, it is less obvious that parents are the ones best positioned to make a decision about elective genitoplasty. Few have previous experience with DSDs to inform their deliberations. Given the distress some parents feel about the DSD diagnosis and the difficulty many parents have in imagining their child’s future adult sexuality, parents may have trouble accurately weighing the trade-offs involved. Since it is not medically necessary to make the decision before the child can participate, it may be appropriate to wait. Proponents of this approach generally suggest that it is not necessary to wait until the age of legal consent, but that genitoplasty should not occur without meaningful, informed assent by the child.

On the other hand, waiting may have disadvantages. The developmental impact of atypical genitals in early childhood is unknown. Some surgeons suggest that surgical outcomes may be better if performed early. Furthermore, a child may be distressed by atypical genitals long before he or she can meaningfully contemplate the full implications of surgery. For some, these factors point towards the legitimacy of parental consent.

Even if it were established that an early decision was in the child’s best interest, however, that would not mean that parental consent is sufficient. There are some kinds of medical decisions, such as sterilization and organ donation, that parents alone can’t authorize. In these cases, a court must determine that the decision serves the child’s best interest. The legal rationale for these exceptions to the general rules of parental consent arguably apply to infant genitoplasty as well: the procedures are elective; they are irreversible with dramatic lifelong consequences; and there is a potential for conflict between the interests of parents and child. (Indeed, some providers have recommended genitoplasty in the belief that it is necessary for the parents’ well-being.)

Whether or not court approval is legally required, from an ethical standpoint, decisions about infant genitoplasty and gonadectomy might benefit from the involvement of other players. Ethics committees, psychologists, pediatricians, other parents of children with DSDs and adults with DSDs all have valuable insight. While they lack decision-making authority, their participation in the process could be helpful.

One thing we can learn from the history of DSD treatment is that “common-sense” assumptions don’t always apply in these unique cases. Currently, practitioners who recommend elective surgery for children with DSDs rely on the belief that parental consent is sufficient authorization. However, given the medical, legal and ethical complexity of the decisions involved, it may be time to reconsider the entire decision-making process, beginning with who should be at the table.

Anne Tamar-Mattis, JD, is Executive Director of Advocates for Informed Choice, Cotati, Calf. She welcomes responses to this article at director@aiclegal.org.

For more information:

• Baskin L. Working with Intersex. UCSF Urology Newsletter. 2003;3.
• Gupta N. When Gender is in Doubt, What Then? Renal and Urology News. Dec. 1, 2007.
• Karkazis K. Fixing Sex: Intersex, Medical Authority, and Lived Experience. Duke University Press. 2008:89-178.
• Kessler S. Lessons from the Intersexed. 1998;77-90.
• Lee PA. A Perspective on the Approach to the Intersex Child Born with Genital Ambiguity. J Ped Endo Metab. 2004:17;133-140.
• Lee PA, Houk C, Ahmed SF, et al. Consensus Statement on Management of Intersex Disorders. Arch Dis Child. 2006:91;554-563.
• NIH. Strategic Plan for Pediatric Urology: NIDDK Research Progress Report. NIH Publication No. 06-5879. 2006:53.
• Snyder H. Editorial Comment. J Urol. 2007:178;1801.
• Tamar-Mattis A. Exceptions to the Rule: Curing the Law’s Failure to Protect Intersex Infants. Berkeley Journal of Gender, Law & Justice. 2006:21;59-110.