Bonnie:  Quinn did not have symptoms, however her older sister did.  Her OH17 level was up when she was 5yrs old, so the doctor assumed she had CAH like her older sister.   Quinn never had an ACTH stim test.  Due to recent events we pursued genetic testing.  Three weeks ago they found one defective LOCAH gene, but no other, which would make her a carrier.  We are weaning her off Cortef (after 8 years on it) and the last week she is having a more difficult time with a 1/4 of a pill every other day.  More headaches & fatigue.  She is going in for labs in the morning. 

However, they did further sequencing and found a mutation called Exon 7.  They do not know if Exon 7 is on the LOCAH gene or on a different gene.  In addition, our ped.endo, said there might be another mutation called Exon 10.  I never heard of Exon anything, (except when filling my gas tank in my car!! hahaha) and I was wondering if anyone knows about additional mutations on an already mutated CAH gene???