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

Nathalie Josso, M.D., Ph.D.

Few issues in medicine are as controversial as gender assignment in DSD and I would not venture to guide young colleagues in this jungle, particularly because the paths vary significantly in different parts of the world.[19] Even in apparently simple cases, following established guidelines may not yield the expected results. I remember one of my first patients, a 15-year-old girl referred from Algiers because of pubertal virilization; she had been expelled from a girls' school because of hirsutism and aggressive behavior and her gender had been questioned. I diagnosed CAH and after obtaining the result of Barr body examination, I rushed to announce what I imagined was good news: she was truly a girl and appropriate treatment could arrest virilization. To my amazement, she burst into tears and explained that she had hoped to become a boy and enjoy the privileges associated with male sex in Muslim countries. Instead, she would have to stay at home and submit to an arranged marriage.

Neither is there safety in numbers… The "consensus" conference gathered in Chicago[1] recommended assembling a multidisciplinary team for DSD management. While certainly preferable to "solo" decisions, shifting responsibility from one to several practitioners does not automatically guarantee a favorable outcome. I remember the case of a 4-year-old CAH genetic female raised as a boy because of extensive virilization. The experienced pediatric endocrinologist, the surgeon, and the psychologist unanimously agreed a change of sex was required and persuaded the reticent parents to agree. The family never adapted and the child was put into foster care.

In XY DSD, it is even more difficult to arrive at the right decision. Worse, does a right decision even exist or must one resign to a choice between inadequate virilization and amenorrhea and infertility? One of the main problems, stressed by several authors of this chapter, is uncertainty. Less than half of XY DSD patients benefit from an accurate diagnosis before the age of 6 months, even in developed countries.[20] This uncertainty extends to prognosis. Long-term follow-up studies are not necessarily helpful because they do not address the results of the practices and surgical techniques that are presently available.[21]

Yet one must choose, because delaying gender assignment until the child can make his or her own decision is not an option in most societies, nor is leaving the decision to law courts, as in Australia, an acceptable solution for most people.

So, for what it is worth, my advice is as follows:

  1. Try your best to come up with a diagnosis as soon as possible: it may not guarantee success, but it helps.

  2. With the assistance of colleagues, weigh the pros and cons of male or female gender assignment and seek to arrive at a recommendation.

  3. Explain the situation to the parents as simply as possible and eventually correct misunderstanding of information gathered on the internet.

  4. Ask the parents to what sex they feel the baby belongs and which they would prefer. Some parents, mostly fathers, will not hear of raising a poorly virilized XY child as a girl, others will not accept an infertile female. There is a potential conflict of interest between parental rights and those of the newborn.[17,18] If you feel that wishes of the parents are not in the best interests of the child, try to make them change their mind. However, remember that it is impossible to raise a child against strong parental feelings and be aware that your own predictions may turn out to be mistaken in the long run.

  5. Once consensus on gender assignment is reached with the parents, with their consent, ask a specialized surgeon to bring the genitalia in conformity with social gender. Some patient advocacy groups have put forward the view that no surgery should be performed before the child is old enough to give consent,[22] but this attitude leads to embarrassment and distress for child and parents. However, if possible without risk, early surgery should be conservative, leaving options open for the future, which may not turn out as expected.[17,18]

Be guided by humility, common sense, and pragmatism; provide support and reassurance and hope for the best!

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