re: sw cah and late onset cah
Feb. 17th, 2003   8:03pm

Brenda,

To put it simply (and there are some other variables to what I’ve written below),  BUT generally  people with late-onset CAH may carry:

1). Two mild mutations  =  MILD/MILD,

OR  2). A mild and a severe mutation =  MILD / SEVERE (SV)

OR 3). A mild and a null mutation= MILD/NULL (SW)

Therefore a parent with either of these three combinations will have late-onset CAH.

In the scenario that you mention; this late-onset person who fits into eg. the third group with the MILD/NULL combination, may marry or partner  a person who unknowingly has a NULL mutation and whammo the child may inherit the NULL component from both parents and YES the child will then be a salt waster (SW).

Now that technology allows, this is the reason why it is wise for anyone with CAH who is thinking of having a child to check out the apparently non-affected partner, as they may in fact be heterozygous for (carry)  one CAH mutation.

Rosalie

 

Rosalie
Rare Disease Search Engine, Homeschool Sites, Online Homeschool, Online Income, Ethical Adsense, Creative writing, Family Web Hosting, Christian Radio, Tulsa Parks