re: It could be...
Aug. 5th, 2003   9:23am

thank you to everyone for your answers,

I would like to answer particularly to Risty : the DNA testing has already be performed (in France, where we live) on my husband, my affected son and I.

My older son was not tested because doctors said there was no other risk for him than to give the disease to his children.

The genetic analysis demonstrated that my husband and I both had one gene with a deletion or a mutation and the other gene normal. If the other gene had been affected with NCCah for one of us, do you think the analysis would have shown it ?

As for my affected baby, he is a boy (so, no virilization problem) and I don’t think he was misdiagnosed since he was in hyponatremia at 10 days old and had the DNA test.

But thank you for confirming me that all the doctors I have seen were not well informed (what I already supposed !) : there are cases of families where a child has NCCAH and another one has classical CAH ! Three endocrinologists already ensured me that it was not genetically possible !

Anyway, I have taken a rendez-vous with an endo for my older son for thursday and I will tell you about what happens !

Thank you again

ariane

 

 

 

ariane
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