Classic congenital adrenal hyperplasia (CYP21A2)

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What is Classic congenital adrenal hyperplasia?

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a severe inherited disease mainly characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration during the neonatal period, life threatening hypoglycemia and hyperandrogenia. The age of onset is neonatal or infantile.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency follows an autosomal recessive pattern of inheritance. A couple is at risk of having affected offspring only when both members are carriers of the disease. When both members are carriers, the risk of having an affected child is 1 out of every 4 children.

 

Infografico Carriers

 

What is the next step if I’m a carrier of Classic congenital adrenal hyperplasia?

If you are found to be a carrier of Classic congenital adrenal hyperplasia, it is important that your partner be tested for the same genetic disorder.

 

What if my partner is not a carrier?

If your partner’s test for Classic congenital adrenal hyperplasia is negative, the chance to have an affected child is low. However there is currently no test able to detect all existing mutations, so there is always a residual risk that the person who has done the test is a carrier of other less frequent mutations.

 

What if both me and my partner are carriers of Classic congenital adrenal hyperplasia?

When both parents are carriers of Classic congenital adrenal hyperplasia, the probability of having a child with this disease is 25%.

We recommend that you discuss your results with your doctor or genetic counselor in order to know more about reproductive options.

 

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