Today I performed a DOT ( Department of Transportation) physical exam on a 6’2″, 237 lb truck driver who except for the fact that he can’t shave and his voice is high, looks like a man. If I obtained a chromosome test on him though, he would technically be a she. You see, he has Klinefelter’s Syndrome which means he has two female chromosomes and one male chromosome. Therefore he has testes that do not function and do not make the male hormone testosterone. That is why he does not shave and that is why his voice is high-pitched. Needless to say, he and his wife have no children.
His exam today other than these features is completely normal and I am able to certify his DOT physical for another two years. Fortunately, I have finally been able to talk him into taking testosterone which he reports to me is helping him feel quite a bit better. The testosterone now comes in body patch form (Alza). I have also been trying to talk this man and his wife into using donor insemination as a means to have their own child.
Needless to say, Klinefelter’s Syndrome is very rare and presents me as the family physician with a “textbook medical case.” I want to emphasize that my primary purpose in treating this patient is to take care of him as a person and not his rare case.