Congenital Adrenal Hyperplasia

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re: Possible Symptoms?
Mar. 1st, 2008   11:18pm

Wow Gds you write very well for 17!! Well done for communicating your problems so articulately.

Hmmm! I think you have very good reason to want to be tested for NCCAH (non classical CAH) or alternatively PCOS (polycystic ovary syndrome). What are your periods like? Are they regular? Long/short? How tall are your parents? Have you finished growing? Are you shorter than any older sisters?

Obviously you perceive your facial hair to be more than most other girls your age. Sometimes this can be related to racial background such as Mediterranean; sometimes as teenagers we can feel that anything/everything about us is different to others; but equally NCCAH is a possible reason for extra facial hair.

Regarding your doctors perception of how 'hairy' you are - yes if you shave before you have an appointment with him he probably wouldn't have a clue as to the extent of your hirsutism. So that is not much to go by.

One thing I have to say about your doctor, he seems slightly misinformed regarding  the 'salt problem'. In NCCAH (sometimes also called late onset CAH) losing salt is not really a big issue (generally) as it is in classical CAH. However feeling light headed may point to a low BP (blood pressure) which can mean that the body is struggling to hold onto it's salt. Perhaps he is going by your electrolyte levels and they would most probably be completely normal but to really know how your body is doing in regard to retaining salt you would need to have Plasma Renin levels done.

Other things like the prolonged acne alone makes it worthwhile in my opinion for you to get checked out hormonally.

These are the tests that you would need to have done to get checked for NCCAH:

Baseline (around 8am) 17-OHP (hydroxyprogesterone) and if possible 17-OHPreg (hydroxypregnenolone). Testosterone, Androstenedione, DHEA-s and Cortisol.

The doctor could perhaps do these above mentioned tests first, then depending on the results he should order an ACTH stimulation test. However if he ordered the ACTH stimulation tests straight off then you get a better and more accurate overall picture of what is happening. This is a longer test which involves you having baseline blood draws done and then more blood taken at 30 minutes and then at one hour.

The problem people come across time and time again is that local doctors may not be overly familiar with these medical conditions and thus results of tests may be incorrectly interpreted. Sometimes even incorrect tests or inadequate testing may be done, so ensure that your doctor does these ones that I have mentioned. He may want to do other tests in addition - but these are necessary to diagnose NCCAH! It's very hard because they often don't like suggestions from their patients, yet somehow we need to be advocates for our own health while at the same time respectful in presenting our case.

Should you get abnormal results the specialist to see for follow-up would be called an endocrinologist.

Don't forget to ask for copies of all results of tests that you have done.

Let us know how you get on!

 

 

Megan




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