Congenital Adrenal Hyperplasia

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Need help with diagnosis Main Archives PageLOCAH Archives for 2005
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Need help with diagnosis
Jun. 24th, 2005   7:20pm
I’m new here, but have been researching LOCAH because I think my 15yo daughter may have it. She has an appointment with an endo in July, so I am trying to find out as much as I can beforehand. The endo has already told the obgyn who is referring my daughter that, based on what she (the obgyn) has told him, he wouldn’t do an ACTH stim test. This is my daughter’s story:

She has been suffering with chronic hives for 2 years, which sent us on a medical quest to try to find out the cause. We found food allergies, which I believe was a trigger, but not an explanation for why the hives continue daily, while carefully avoiding the offending foods. Then a dermotolgist found that she has a high testosterone level. She had very infrequent periods, and when she did have them, they were very scant (does anyone else have scanty, infrequent periods?). She also has mild hirsutism. Went to the obgyn, who diagnosed "possible PCOS," but an ultrasound was normal--no cysts. Obgyn gave her Yasmin, but wanted her to start it right after a period. After waiting 35 days without a period, she gave my daughter Prometrium to take to start a period. Nothing happened. Finally obgyn told her to just start taking the Yasmin anyway.

On Yasmin, she felt better and had regular periods, but still very scant (on heaviest day, she can wear just 1 pad all day long). I began reading up on PCOS and began to question the diagnosis because of the ultrasound, which showed a thickness of only 4 mm, and scanty periods (I kept reading that one of the problems with PCOS is endometrial hyperplasia--lining gets too thick). When I questioned the obgyn, she checked 17 OHP. It was 328, also her estradiol was 20. Obgyn consulted with an RE, who said 17 OHP should be rechecked when she is off BCP, and if it is over 200, she needs the stim test. However, the RE doesn’t do it, so need to see an endo. When 17 OHP was rechecked, it was 227 and estradiol was 76 (follicular stage), so now everyone thinks that is "normal."

I need info to take to the endo to convince him to do the test. My daughter has also had thyroid checked several times, always normal, and blood glucose was normal, but LH is always higher than FSH (at least 2x). To further complicate matters, she had a flare up of her hives and took some prednisone a week before she had the second 17 OHP test done. Would that have made her results be lower? Also, she is always tired. Now that school is out, she’s been sleeping 12 hrs a day, every day. Another confusing fact, she took Yasmin for 6 months, but has now been off of it for 4. Since being off BCP, her periods are more regular, coming about every 5 weeks. Any insight would be appreciated!

Sorry this is so long (and this is the condensed version)!


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