It is interesting that the obstruction is certainly anatomic, but the defect is genetic. And what I mean by that is cystic fibrosis, the male will actually have a fully intact reproductive system as he’s developing. So that the problem is not in the development but what happens is somewhere while he’s still in the uterus, the fluid that normally gets turned over in the vas deferens, in the epididymis, becomes thick and the secretions become so thick, it causes that vas deference to gum up and that is a signal for that tissue to basically collapse, and eventually we say involute or go away. So the key to that is that wherever cystic fibrosis affects us, now that is a mostly we think of as a lung disease, or gastrointestinal disease, wherever it is, it’s a malformation or male function of transport of chloride across cell membranes that leads to that junkie fluid. So whether the junkie fluid in the lungs that causes pneumonia and all the lung complications of cystic fibrosis, or whether it’s in the pancreas and the small intestinal ducts causing the digestive problems, or in the vas deferens. Gene is the same all over the body. It’s just the organ system that’s targeted is going to be different.
So the other key thing about cystic fibrosis is the number of times I make that diagnosis as a urologist and a male reproductive specialist, is far more common than you might think. In other words, a lot of these men don’t have any of those serious, life-threatening abnormalities and cystic fibrosis that gets that condition picked up much earlier. So they may be in their thirties and maybe they have little extra cold symptoms in the winter, or they’ve had pneumonia once or twice. But nobody’s ever thought to test him for that because they never been that sick. And when I do their exam and find that I can’t feel that vas deferens, I order the genetic testing and sort of recreate our steps to make that diagnosis of congenital absence of the vas deferens and cystic fibrosis.
The oldest male has ever picked up in with cystic fibrosis in my practice was over 60 years old. So again two things to know about cystic fibrosis:
- It can be relatively benign condition;
- The treatments for men that have severe cystic fibrosis are allowing them to live well into their adult years and really be interested in reproduction, whereas before this was such a devastating condition that most people didn’t live through adolescence.
So again great news on the front of cystic fibrosis, our ability to improve their pulmonary and their lungs situation, to get to the point where they can contemplate fatherhood and parenthood.
The important thing also about cystic fibrosis is because there’s genetic test for this whenever I make the diagnosis in a male, it’s important for the female partner to also have genetic testing, because they have a much higher chance of having a child with a full-blown cystic fibrosis if both of them test positive for that carrier status.