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21 alpha hydroxylase deficiency

I had some lab work done recently at my annual exam.  I complained that my face is always broken our and I am pulling alot of black hairs out of my chin.  I had a hysterectomy 9 years ago and have not needed to take hormones because I have on functioning ovary left.

The nurse called and said that I they ran a test called 17-hydoxy progesterone and mine is elevated to 472.  The highest it should be normally is 285.  She said that I have a 21 Alpha Hydroxylase Deficiency.  I have googled it and all I am finding is information about children born with this problem and they sometimes have both sets of sex organs usually inside of their body.  I have had two children and an 37 yrs old.  i have never been told that I have any kind of problem reproductively or otherwise.  Do you know what it means to have this deficiency?  I am clueless.  The nurse was pretty clueless also.  They have made an appointment with an Endocrinologist in January but I am very curious.  

Thank You.
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Avatar universal
Hey--I'm not a doctor, but I did some investigating, as well.  I know this link has alot of large medical words, but it does give a little insight...
http://www.merck.com/mrkshared/mmanual/section19/chapter269/269f.jsp

It definitely explains the dark hair, etc.  It may be helpful to go to the library and find out some info on your own.  I always find it better to go to a doc. armed with as much info as possible.  Good luck-MH
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Avatar universal
Thanks, I did look at that website yesterday.  I am going to print it out and ready further. What I am reading doesn't apply completely.  I will definitely have alot of questions at my appointment.
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Avatar universal
I'm couldn't get to the Merck page, so I might be redundant here...

I'm no expert, but I am taking a class in endocrinology and it seems like 21 alpha hydroxylase deficiency goes under a lot of names. We talked about it in class at Congenital Adrenal Hyperplasia (CAH). The 21 alpha hydroxylase also goes under the name of CYP21, or CPY17 could cause a similar condition.

What they told us in class is that typically babies born with CAH have masculinized genitalia, it's the most common intersex condition, with a lot of variability. The masculinized genitalia is from being exposed to androgens in the womb, it could happen if your mother was given some hormones to maintain her pregnancy. I'd imagine if you're perfectly normal on the outside your case is probably not severe...but might be enough to cause a few problems like the ones you mentioned. I am only guessing though. Just thought that the alternate names might help you in your research.

Best of luck in your appointment with the doctor.
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