Diagnosis of non-classic (late onset) congenital adrenal hyperplasia
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Dear Ask The Doctor: I know you can't diagnose her online but please give her your OPINION on what the results of her single dose ACTH stim test mean... BEFORE INJECTION: 11-deoxycortisol = 0.10ug/dL 17-hydroxypregnenolone = 56ng/dL 17hydroxyprogesterone = 58ng/dL DHEA = 344ng/dL 1 HOUR AFTER INJECTION: 11-deoxycortisol = ..doctor said results were normal and she probably has mild pcos (which would be a relief as pcos can be treated with diet and excercise ) but doc says everything she complains about is normal... just want a general direction to go in based on results...wants to know if these results rule out any form of mild congenital adrenal hyperplasia...doc says she doesn't have mild 21-hydroxylase deficiency but what about 11-beta? or 3-beta deficiency? she (the person who took the test) thinks she either just has pcos (like doc says) that is causing her symptoms or she might have the milder form of 3-beta deficiency...that's why she asked the doc. for ACTH stim test. to make sure. she had a significant rise in 17pregnenolone and dhea after stim test...she wants to start treating her pcos (with lifestyle change) but wants to make sure she's not treating pcos in vein if she has a mild 3-beta deficiency that she needs to treat...your opinion would be greatly appreciated. HELP :-/ PLEASE
Dear Curious: “Nonclassic" or late-onset congenital adrenal hyperplasia, can present later in life with acne, excess hair growth and menstrual irregularities. The biochemical findings are basal serum 17-hydroxyprogesterone concentrations (during the follicular phase of the menstrual cycle) may be only slightly high, especially late in the day, but are always greater than 200 ng/dL in adult women. A morning value greater than 200 ng/dL in the early follicular phase strongly suggests the diagnosis. The diagnosis may be confirmed by a high dose (250 mcg) ACTH stimulation test. The response to ACTH is exaggerated, and most patients have values exceeding 1500 ng/dL after ACTH stimulation. Stimulated values of serum 17-hydroxyprogesterone concentrations at 60 minutes range between 1000 ng/dL and 10,000 ng/dl. You have only provided results prior to ACTH injection, therefore it is difficult to comment. Normal serum DHEA concentrations range from 0.2 to 1.3 mcg/dL; the value you have provided is 344ng/dL which is equal to 0.344mcg/dL, which is within the normal range. From the results you have provided, there is no evidence of late-onset congenital adrenal hyperplasia. If you are still concerned referral to an endocrinologist may be appropriate to exclude this as a diagnosis. |
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Last Updated ( Thursday, 20 May 2010 )
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