re: re:
Feb. 22nd, 2006   9:03am
My son also has a mutation of Exon 7 and he is only a carrier.  However, and I apologize to anyone on this board who is probably sick of hearing this story, he was having symptoms.  This is how I found out about CAH.  When he was 7 he started having adult body odor and a few pimples.  Because his sister (no CAH) had early puberty, I took him to a pediatric endocrinologist and based on his original test and a stim test he was diagnosed with LOCAH.  Dr. New’s office did genetic testing and he is only a carrier.  No one wanted to treat him and his bone age advanced by 3 1/2 years in 18 months.  I also thought he might be heading towards early puberty.  Through my pleading, I got someone to give him a low dose of cortef and he is now 11, no puberty and he has been growing OK (on and off) and he has been catching up with his bone age.    I am very glad that he was treated.  He takes 2.5 of cortef 3 X a day and also Arimidex for the bone age.  He has had no side effects from the treatment and I think he would have been very short and had puberty at 8 without it.
bonnie
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