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re: re: re: ACTH test results- is it LOCAH? the doctor is not sure.... Sep. 17th, 2007 8:52am
Do you high or low blood pressure? There is a variant of CAH which usually causes high blood pressure. It is a deficiency of 11 Beta hydroxylase and what needs to be tested for that is 11-deoxycortisol.
Another form is 3 Beta hydroxylase deficiency, which has very similar symptoms to the most common form, 21 hydroxylase deficiency. For 3 Beta, you need to check 17 hydroxypregnenolone. Both these forms usually cause low blood pressure. There are some other variants that are quite rare. The syndrome is still called Late Onset (or Nonclassical) CAH, but if it's one of the less common variants, usually people will specify 3 Beta or 11 Beta.
As for genetic testing, I believe all that is available is for the most common form, 21 hydroxylase deficiency. The CYP21A2 gene responsible for 21-hydroxylase deficiency is located on chromosome 6.
