re: To: Aalece
Nov. 25th, 2002   12:19am

Sandra--Thanks for your response. I appreciate your suggestion to have her re-tested. When I received the results of the DNA testing, I was astonished. I have since consulted with three different pediatric endocrinologists and all agree that my daughter does have CAH (although there does seem to be some question about what form--21 or 11). Each endo also claimed that often genetic testing does not detect the gene mutations. My major concern was that I had late-onset CAH, which would have caused my daughter’s virilization at birth, and that my daughter has been treated unnecessarily for the past year for a condition that she does not have. I mentioned this concern recently to my OB-GYN who humored me by having my 17-alpha hydroxy progesterone level checked (it was normal).  The testing was conducted at H.A. Chapman Institute of Medical Genetics (Tulsa, OK).

 

Aalece
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