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

Stenvert L.S. Drop, M.D., Ph.D.

During the first year of my fellowship pediatric endocrinology fellowship in 1977 at the Montreal Children's Hospital, my mentor, Prof. Eleonor Colle, arranged for me to attend a workshop on intersex at the State University of New York in Syracuse. The faculty was headed by Prof. Robert Blizzard of the University of Virginia. Subsequently, during my fellowship I saw several intersex patients and was most impressed by the struggle of parents to come to terms with advice regarding gender assignment for intersex infants. They had to deal not only with what we were telling them but also to take into account the opinion of the family and of family advisors, who frequently suggested additional consultation. Intersex covers so many aspects—medical, surgical, and psychosocial—that it became obvious that only a multidisciplinary team could serve the needs of the child and parent.

In the early 1980s we organized a multidisciplinary outpatient clinic at the Sophia Children's Hospital that included a child psychiatrist. One of our early referrals was a 4-year-old boy with 46,XX CAH. When we explained our findings the mother replied that she always had the feeling that something was wrong but that doctors had not listened to her. Following extensive discussions with the parents the joint decision was to change the gender assignment in spite of the age. It is to the credit of the careful, long-term counseling of the psychiatrist that the outcome was positive. Although the family lived in a small community, they did not move. I saw the girl last when she was in her early twenties, and she was a healthy and happy student.

In the early days of our clinic intersex states were treated with secrecy and a sense of shame. I remember a letter we received in 1981 from a young adult man who expressed his suffering from the stigma associated with his intersex state. His isolation and despair drove him to suicide just a few days before our first scheduled appointment. A major positive development in the ensuing years has been the gradual loosening of such taboos, and as a consequence our team has strived to provide full information to parents and age-appropriate information to patients. By way of example, a boy of almost 4 years of age was sent by plane in 1998 from another country to relatives in the Netherlands. The diagnosis of ovotesticular DSD was established, and the gender behavior/identity and social background were carefully evaluated by our child psychologist. Together with the caretakers, the decision was reached to raise the child as a girl. A formal ceremony in the tradition of her home community was held for formally changing the sex assignment from male to female. The change in gender assignment was well received by family and schoolmates, and subsequent development has been favorable.

Some additional patients have had less positive outcomes. Girls with complete forms of androgen insensitivity or 17βHSD3 deficiency may become sad and angry when confronted with their diagnoses as teenagers to learn that they are different than their peers and, in particular, that they will be infertile. Similarly, boys with partial androgen insensitivity may not respond as they expect to high-dose androgen therapy and may develop gynecomastia that requires additional treatment.

The consensus meeting in Chicago in 2005 has proved to be an important turning point and stimulus to basic and clinical research.[1] At the same time in many countries patient advocacy groups have been formed to promote the well-being of patients and parents and the destigmatization of DSD. I am proud to be an honorary member of the Dutch androgen insensitivity group.

A national Dutch DSD study group has been formed to focus on the outcomes in subjects with DSD in clinical and psychosexual terms. At first I was surprised at the reluctance of many adult DSD subjects to participate in this organization but came to realize that there are many reasons why they may not want to look back. Presently, we are collaborating with a DSD clinic in Central Java that is accessible for subjects irrespective of income. Already more than 300 patients have been enrolled. Only one-third of these subjects are referred in their first year of life, and no specific diagnosis is made in most because of limited availability and costs of diagnostic tests. By comparing Indonesian and Dutch patients we hope to learn more about psychobiological and psychosocial factors that contribute to gender development, the advantages and disadvantages of early medical/surgical treatment, and the effect of psychological counseling on psychosocial development.

In the recent past a major effort has been to develop a Web site based e-learning module on DSD with the aim of providing an interactive learning environment (www.espe-elearning.org). This site addresses problems of real-life subjects from all over the world. There are two levels of learning. The core level is for (undergraduate) medical students and focuses on normal genital development and its pathophysiology. The advanced level for postgraduate students and fellows is addressed to the analysis and diagnosis of DSD, the approach to problems related to DSD, and how to communicate with professionals, patients, and parents.

processing....