re: Heterozygous CAH
Jun. 26th, 2002   10:38pm

Thank you for the info Andrew.  From what I am reading he does seem to have a lot of symptoms...but I am new to this.  He has underarm hair and odor, some pubic hair, low voice, VERY defined muscles, bone age is about a year older, and is in the 98% ile for size and weight.  It is because of these symptoms I took him to the endo.  He had the underarm odor, low voice, large size and was pretty muscular when I got him at three.  Slowly the other things developed. He did have surgery a couple of years ago to repair a hernia and he sailed through it with no problems.

What further tests should I expect?  I don’t even know what tests he has had run.  They did some blood work and the results of that is why they called him back for the ACTH. Why do you recommend a geneticist?  He was examined by a geneticist when he was 3 because these symptoms did bother me.  At that time they did not find enough abnormalities to do a chromosonal study.  He was also examined by this endo and he felt at that time there weren’t enough symptoms and decided to not run any tests.  He did say to bring him back if things get more severe which I have done.  The endo said we have to watch him closely the next few years.

Janet

 

Janet
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