What are the symptoms of congenital adrenal hyperplasia?Congenital adrenal hyperplasia is an inherited disorder. It is a recessive disease, which means that a child must inherit one copy of the defective gene from each parent who is a carrier; when two carriers have children, each pregnancy carries a 25%
risk of producing an affected child.
Female children with severe CAH might be born with male genitals. All children with severe CAH have masculine features (such as excess facial hair), grow quickly but stop growing before they should, have difficulty fighting off even small infections and may have trouble keeping enough salt in their bodies.
However, people with mild CAH are sometimes never diagnosed. They may be shorter than either of their parents, yet still be of normal height. They may have acne and blood pressure problems. When they get colds and sinus infections they don't get better as quickly as other people do. Women with mild CAH may have genitals that don't look like other women's genitals. They may have square shoulders and narrow hips. Sometimes they have too much hair on their faces. Women with mild CAH often have irregular periods. They often have trouble getting pregnant.
The adult onset form is far less severe than the childhood version and usually never produces salt wasting. Often cortisol production is only slightly sluggish and only causes bother during stress such as illness or injury. Patients however may feel tired and listless at all times. The real trouble arises from the over production of the androgen. In the male this is unlikely to be ever noticed but the women certainly notices a change.