News From the Nursery Lab 2008-7

It's my belief that a working person needs to be aware of their surroundings all the time. Not only is this because of safety, or any number of other things, but because occasionally you just might learn something.

In my work career I've found that listening to as much as you can gives you insight to more things than your own little bubble. I try to listen to everything - what the docs are saying about the patients, what the nurses are talking about as they sit at their computers, what co-workers might be griping about, and everything in between.

In a NICU such as ours, we see things that are not common. Such was the case today.

Because I try to listen to everything, sometimes I catch something that isn't simply idle gossip.

I was heading back to the lab after seeing a patient, and noticed the PA and one of my favorite RN's discussing something. As I passed by, I heard two words put together that I never had even thought of together.

Ambiguous genitalia.

What? What in the hell is that? Of course, I figured out several things fairly quickly that it might be.

It wasn't too long before I found myself in one of the RN's patient rooms.

"Hey, I want to ask you about something you were talking to Jean about."

"What's that?"

"She said "ambiguous genitalia" and I'd like to know what that means for sure.

He said, "It means we're not sure what sex a baby is."

I'm sure my jaw dropped. I mean, I know babies can be born with both sets of genitalia, but for some reason I hadn't thought it out past that. Suddenly ambiguous sounded almost neuter, like looking at the lower half of Ken and Barbie dolls.

The next thing he said was, "Do you want to see?"

"YES!" I said.

So, he undid the diaper and pulled it down and showed me everything.

The condition is called a "Cloacal Malformation". It happens in approximately 1 in 25,000 births. While there is some variance, in this case it means that something went haywire at the time when XX and XY were trying to decide which way to go. And, they made a decision chromosomally, but physically never quite got the message across. The baby is definitely a little girl - the testing resulted in definite XX chromosomes. And, there were no testes present. But first glance makes you think the child has a very tiny penis. But in this case it is a clitoris exposed, with no labia surrounding it.

That's only the physical part that can be seen, though. What is deeply serious about cloacal malformation is the confluence of the of the rectum, vagina, and urethra into a single common channel.

A colostomy had to be had to be done shortly after birth. Kidney function had to be restored in some way so somehow the kidney or bladder (I was so amazed at hearing all this I don't remember) was brought to the skin surface and somehow it is disposing of urinary waste by oozing into the diaper. I think dialysis is being done, too.

Eventually, surgeries will be done to repair all these things so the baby can have normal waste elimination, and her girl parts will be be repaired to be more normal looking and make it possible for normalcy when that stage of her life arrives.

I asked the RN if he'd ever seen something like this before. He said he had, but until now only once. That's when he quoted me the statistic of how this happens in only about 1 in 25,000 births.

And then he told me that not only did we have this child born with cloacal malformation, but the baby in the next room, who is not related, not from the same town, etc. was also born with the same thing.

It's horrible and yet oddly fascinating.

Kate