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The patient’s right to know
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A few years ago I confirmed the diagnosis of Klinefelter’s syndrome in a 38-year-old man. The dilemma I faced was just how much to tell him about the condition. When I took his history at the first visit he told me that he was the “father” of three children. The discussion about “the patient’s right to know” that he was not the biologic father of those children took place in the conference room with the fellows, residents and students. I was intrigued by the depth of feeling among them and particularly how attitudes changed with age and experience. The students were the most adamant about my responsibility to tell all to the patient. Things worked out OK, and to my knowledge this remains a close-knit family, but it was a very tough clinical encounter.
Recently I saw another tough case of a 16-year-old girl with primary amenorrhea. Since her mother had her menarche at age 15, neither the patient, mother or pediatrician had been overly concerned about this. But now it was time to investigate, beginning with history and physical examination. The pelvic examination could not be completed because there was no vaginal opening and the patient was referred to a gynecologist who, after her attempt at examination, ordered imaging studies to confirm that there was indeed no vagina or uterus. This patient has the androgen insensitivity syndrome, formerly known as testicular feminization.
The radiologist report indicated that there were “nodules” near the inguinal region that could be testes and suggested that a consultation with a geneticist be considered. When the patient was referred to me the parents had been told of the possible diagnosis but the patient had not been told — maybe I should take on that responsibility. Thanks!
I reviewed the reports with her and her parents and explained that organs in the wrong place need to be evaluated and often removed. With her mother present she consented to be examined yet again but my focus was in determining whether there were palpable testes, and there was one clearly on the right but not on the left. I have referred her to a urologist for biopsy and subsequent local management. Hormone therapy can wait for now.
Androgen insensitivity is a true test of physician sensitivity! What to tell her? When to tell? When to discuss constructive surgery — probably after she finishes high school, but who makes that decision?