re: Newly diagnosed with NCAH
Dec. 21st, 2006   1:10am

Hi Valerie,

A couple of things!

What type of symptoms did your son have  before diagnosis? Also do you know what his ACTH stimulation test results were or if that was not done - his baseline 17-ohp? 

His bone age was very advanced and that would make me be cautious about the LOCAH (non-classical) diagnosis. Manifestation at 4/5/6 years in a male child can also be Simple Virilising CAH which is Classical CAH. The effect in the longterm is that LOCAH people may be able to go off steroid treatment once they reach adulthood or finish having children but SVCAH people have a fundamental lack of cortisol production which may be evident as a chronically elevated baseline ACTH level and therefore are at greater risk if they stop their medication.

Sometimes the baseline level of 17-ohp will give a good indication of SV versus LO (the SV will be much higher) but ultimately mutation (genetic) testing clarifies it more definitively. This of course can be expensive unless you get into some sort of research study where they are looking at mutations for CAH.

 

 

 

 

Megan
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