The symptoms of CAH may appear differently depending on factors including your age at diagnosis, and whether you are male or female. Each type of CAH has different symptoms.
For people living with classic CAH, symptoms occur due to a lack of the enzyme 21-hydroxylase. Doctors group classic CAH into 2 subcategories: salt-wasting CAH and simple virilizing (non-salt-wasting) CAH.
Salt-wasting CAH is the most severe form of this disease. People living with salt-wasting CAH have adrenal glands that don’t produce enough aldosterone, a hormone that helps regulate sodium (salt) levels in the body. Low levels of aldosterone result in too much sodium being lost from the body in urine.
The hormonal imbalances caused by salt-wasting CAH result in severe symptoms, including:
Additionally, people living with salt-wasting CAH have high levels of androgens, or male sex hormones, in their bodies. Elevated androgen levels cause other symptoms, including:
Simple virilizing (non-salt-wasting) CAH causes a less-severe aldosterone deficiency. Androgen levels are also elevated in this type of CAH. Symptoms of simple virilizing CAH may include:
People with nonclassic CAH also have too little 21-hydroxylase enzyme activity, but this deficiency isn’t as severe as in other forms of the disease. You may be unaware you have this form of CAH because your symptoms are more mild. Children, teenagers and adults are all diagnosed with nonclassic CAH.
The symptoms of nonclassic CAH include: