Congenital Adrenal Hyperplasia

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re: re: cah in 20's to Rosalie and Kat
Feb. 2nd, 2007   7:15am

Hi Liz,

Genetics are complicated but these are the odds for CAH.

Scenario 1).

You have SWCAH = 2 mutations

Husband = no mutations ->

= child will be a carrier with one mutation.

 

Scenario 2).

You have SWCAH = 2 mutations

Husband carries one CAH mutation ->

=  there is 50% chance for each pregnancy that the child will have CAH (child will have two mutated alleles. One CAH mutation from mother and one from father).

the other 50% chance for each pregnancy will be that the child will be a CAH carrier (the child will carry one mutation).

 

Scenario 3).

If you have CAH and your husband also has CAH then all your children would have CAH.

 

Now I don't want to confuse you but very occasionally a de novo (meaning new) mutation arises in the foetus, so even though the father may not be a carrier the child may have CAH, if you have CAH. This is such an outside chance though, so I wouldn't worry about it.....;-)

 

The other thing about Scenario 2 & 3 is that the severity of the child's CAH would depend on the least severe mutation which is passed onto the child. So for instance if you have two SW mutations and your husband had one SW mutation -> your child would either have Salt Wasting CAH or be just a carrier for SW CAH.

If on the other hand your husband had a NCCAH (non-classic, less severe) mutation then your CAH children would probably express their CAH in a lesser severity than you have.

 

I hope this is clearer than mud!!!

Rosalie




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