Re: looking for info to ask endo. about diagnosing CAH
9/4/00 8:47 PM
Marguerite, When my daughter was diagnosed the first set of bloodwork was Electrolyte panel (was normal), FSH (normal), LS (normal), Testosterone (high). They also did a chromosome analysis (normal!) and I think 17-OHP (normal). This blood work was done because she had no vaginal opening (there was no responce to estorgen cream). After some additional tests (ultrasound, xrays) 1 1/2 weeks before she was to have some exploratroy surgery I recieved a call from the Dr's office that they wanted more bloodwork done. Among other things they checked the coritsol level (way low) and testostrone (higher than before). Surgery was canceled the night before and we were sent to an endocrinologist. It was obvious to everyone that my daughter probably had CAH (low corisol, high testostrone, ambigouis genetalia). For a complete diagnosis the ped endo did the ACTH test and checked for the other forms of CAH. Turns out that Olivia has 11-Beta-hydroxylase deficiency which was VERY obvious once we had the ACTH results. Since her counts were so out of wack, it was obvious from the baseline results. My understanding is that with the ACTH test they can check for each possible CAH deficiency. Good luck!
Janet D
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