Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist From Experienced Clinicians

Jean D. Wilson, M.D.; Marco A. Rivarola, M.D.; Berenice B. Mendonca, M.D., Ph.D.; Garry L. Warne, A.M., M.B.B.S., F.R.A.C.P.; Nathalie Josso, M.D., Ph.D.; Stenvert L.S. Drop, M.D., Ph.D.; Melvin M. Grumbach, M.D.

Disclosures

Semin Reprod Med. 2012;30(5):339-350. 

In This Article

Garry L. Warne, A.M., M.B.B.S., F.R.A.C.P.

One of my heroes in pediatric endocrinology, Dr. Jud Van Wyk, once told me "It doesn't matter what you decide about DSD, you will be wrong!" His comment reflected the raging controversy about the ethics of decision making that was emerging at the time.[12] Looked at another way, it might be interpreted as meaning that there is no "right" answer, no perfect outcome for the child who has been born with ambiguous genitalia. Much of the anger that has been generated in the debate about surgery for DSD relates to the imperfection of the outcome for some individuals.[13] Clearly, if the person has gender dysphoria and no sense of comfort in his or her own body, the outcome is terrible. If, on the other hand, they are content with their gender identity but are unable to derive satisfaction from sexual relationships, they may be incorrect in attributing that to whatever surgery they had, because many people who have not had surgery also derive little satisfaction from their sexual relationships, for many reasons that have nothing to do with genital anatomy.

The management of DSD necessarily involves managing uncertainty. We can never predict our patient's gender identity with certainty, regardless of the diagnosis; we can only deal in probabilities. Often, we don't have a precise diagnosis, especially in 46,XY DSD[14] so we have to make predictions based on the most probable diagnosis. We cannot predict with certainty that a particular type of surgery will allow the person to enjoy sexual relations when he or she reaches maturity.[15] We don't know the risk of gonadal cancer for any individual[16] or the capacity of the gonads to make enough hormones to allow puberty to be completed.

The management of uncertainty is the business of biomedical ethics. The key question is: How should we behave? How should we advise about treatment and protect the best interests of the patient at all times? I believe the time has long passed when crucial decisions about genital surgery on infants with DSD can be made safely by any individual clinician. There are so many different angles to be considered and so much evidence to be weighed that decisions such as these should be thought about very carefully by a multidisciplinary committee. I think that every hospital wishing to be regarded as a center of excellence in DSD should establish a clinical ethics committee and that every case should be referred to the committee for a careful ethical analysis. At the Royal Children's Hospital Melbourne, the Clinical Effectiveness Committee (CEC) is drawn from the general staff of the hospital (nurses, allied health professionals, the hospital's in-house legal counsel, doctors, psychologists) and is chaired by a staff member from the Children's Bioethics Centre.[17] The discussions that take place are some of the most educational and enlightening that I have ever attended because the approach taken to analyzing the issues is radical, in the best sense of the word. The CEC does not have community representation and I believe that this should be added. Parents do not attend, although they could be invited, at least for part of the meeting. The committee uses as the framework for its deliberations the set of ethical principles that we have developed and which have been published.[18]

The treating clinician attends the meeting of the CEC and receives a short summary of the discussion and recommendations within 24 hours and a detailed report at a later date. If significant ethical objections to the proposed treatment have been identified and these cannot be resolved, the full hospital ethics committee is convened to discuss the issues. In the last resort, if there is profound disagreement between any of the parties, application to the court remains an option.

Although decision making in this environment is a slower, more deliberate affair, parents and clinicians appreciate the seriousness of the attempt to consider all options and to protect the best interests of the child. The parents, of course, need emotional support to help them deal with their uncertainty.

Uncertainty is, in itself, not a bad thing. To feel certain that one is right without justification is far worse. Acknowledging some uncertainty and dealing positively with it is the way we should behave.

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