Does the patient always have the right to know everything?

I once made a diagnosis of Klinefelter’s syndrome on an 85-year-old optometrist referred for management of multiple vertebral fractures. I saw no downside to telling him the exact diagnosis, and he was relieved to finally understand the issues he faced growing up. How he got to 85 without this information either means inadequate care or his physicians felt that there was no point in telling him.

What about the 37-year-old “father” of three in whom I made the same diagnosis? I cannot remember the reason for the referral. I had lengthy discussions about his right to know with the trainees. The medical students were adamant (but polite) that he should know. The fellows were reluctant to share the diagnosis with him, while the residents were not sure. I told him he had some problems with his male hormones, and his mother completed the story (of course she did not know the genetic diagnosis, but she knew that there were male problems as he was growing up). That made the situation somewhat easier for me although he was adamant for some time that his children should have a DNA test. In the end he wonderfully and completely accepted that the children he had raised and loved had not changed and that his attitude to them would not change.

Even more difficult was the 16-year-old who presented with primary amenorrhea. The mother and primary physician had not been overly concerned at the 15-year annual physical because mother did not have her first period until age 15. The primary physician attempted a pelvic examination only to find that the teenager did not have a vagina — just a small cleft with scant pubic hair. An ultrasound confirmed the absence of a vagina or uterus and noted two areas in the inguinal area that could be testes. The radiology report suggested a karyotype, but that was, in my opinion very appropriately, not done. The patient came to the clinic with mother and father, and I had prepared some material about the androgen insensitivity syndrome (formerly known as testicular feminization). While the patient was preparing to be examined, I took the opportunity to have a brief discussion with the parents who had done some searching of their own and appeared grateful for the material I shared. This patient was and is a girl/young woman, and after the discussion with the parents, we did not discuss diagnostic labels. She did have a small mass in the right inguinal region, and I explained that since this gonad was not in the right place, it might have to be removed, and one (not palpable but identified by ultrasound) on the other side would also have to be removed. I referred her to a urologist after first discussing the case in detail. The urologist obtained a karyotype which did confirm that she was XY and sent a copy of the report to the parents. The result was not unexpected, but they were in a quandary about their next steps.

This young woman does need to know her situation in full, but who should tell her and when?

The situation has been resolved — I believe to everyone’s satisfaction and hopefully comfort — but I would appreciate your thoughts on how you would have handled these and other circumstances where there is appropriate reluctance to blurt out all you know about the patient.