re: a friend that’s pregnant (husband has CAH and she’s a carrier)
Nov. 8th, 2006   7:50am

I think your friend needs to talk to her husbands endocrinologist, and/or get involved with an OB/GYN that has some knowledge of CAH.  I would be concerned that whatever tests a regular MD is running may not be interpreted correctly if that is not his or her specialty.  Besides the fact that they didn’t check her until she was how far?

My brother and I are both salt wasting CAH.  His wife got tested to see if she was a carrier prior to getting pregnant with their first child, and she was not. My husband got tested as soon as I found out that I was pregnant, and I was put on the Dex. until the results came back that he was not a carrier either. It is mind boggling to think that his endo. did not inform him that these options are available with today’s medicine.  A simple blood test could have put a lot of this fear behind them a long time ago.

As for the ambiguous genitalia, if she has all ready had an amnio. done, they should be able to tell her the sex of the baby.  I know a lot of people still want the surprise of a boy or girl when the baby is born, but I think it will really ease her mind knowing prior to delivery.  If it is a boy, the genitalia will not be affected by CAH.  If it is a girl, the amnio. should be able to tell if she is affected by CAH or not.  If the female is affected by CAH, it does not necessarily mean that she will have the ambiguous genitalia.  Some of the more specialized ultrasound machines are also able to measure the labia of a female to see if they are enlarged or not.  Just keep in mind that the dex. is not guaranteed to prevent the ambiguous genitalia, nor does it cure or prevent CAH.

I hope this helps a little.

KERRY
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