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Congenital Hyperinsulinism
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Autosomal recessive in the case of three of the currently known mutations and autosomal dominant in the case of the remaining two known mutations. Genetic counselling should be sought in families known to be at risk of CH.
Prenatal diagnosis
In some forms of CH, amniocentesis at fifteen to eighteen weeks of pregnancy may be possible where there is already an affected family member. However, this is not possible in all forms of CH.
How is it treated?
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