Congenital Adrenal Hyperplasia

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re: re: re: Genetic testing
Jun. 23rd, 2008   7:34am

Yes, Exxon 7 is a V28IL mutation and the mutations in my case are heterozygous.  Most of the time the person will be heterozygous as opposed to homozygous and genetic testing will show which one anyway.  And, you're right Megan,  I did flip it around accidentally -- Intron 2 is the severe form.

The chances increase if both parents are carriers of Exxon 7 and Intron 2 or have LOCAH themselves, that's why it's pertinent that anyone who's been diagnosed receives genetic testing.  It just makes an awful lot of sense.  Because although Exxon 7 and Intron 2 are normally associated with non-classical CAH there are rare instances of it being associated with simple-virilizing CAH.

 

Hope Suzanne




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