Carrier parents have a one in eight, or 12.5 percent, chance, with each pregnancy, to have an affected child since only males are affected. Autosomal recessive means that each parent carries one copy of the gene, and transmits the gene at the same time to the child. Carrier parents have a one in four, or 25 percent, chance, with each pregnancy, of having an affected child. Affected females have ambiguous genitalia, but affected males do not. In some cases, the mother of a child with CAH can be given medications during pregnancy to lessen the effects of the enzyme deficiency, if the fetus is female.
Treatment is available if diagnosed early.
Males and females are equally affected. There are other, rarer enzyme problems, which can result in CAH, in either males or females. When a child's genitalia appear ambiguous at birth, your child 's physician will conduct both a medical history and a physical examination of your child's external genitalia. The medical history will include the mother's health during pregnancy, and a family history of any neonatal deaths or genital abnormalities. First, your child's physician will make a diagnosis of the underlying cause of the disorder.