Congenital Adrenal Hyperplasia

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re: re: re: re: re: re: The other (VERY) long story - to Annalise
Apr. 27th, 2008   9:18pm

Anyone who has CAH in the family should make sure their partner is tested, as well.  My husband has two defective CAH genes, one severe, one more mild (he is asymptomatic).  We had no idea until my daughter was born SWCAH.  I have a gene deletion, so his severe gene was unopposed.  My next born is a carrier and my last born is SWCAH with the mild gene defect.  Ironically, he has had more problems (aside from surgery) than his severely affected sister.  Our chance for a CAH child is 1 in 2.  All of our children will be carriers.

We also found out that we have many cases of non-classical CAH in the family (two of my sibs, several cousins), which is from a different gene mutation.  CAH is not a clear cut disorder.

EAG




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