The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. Males typically appear unaffected at birth even when they have a severe form of CAH and without proper diagnosis, will develop associated health problems within 2-3 weeks after birth.
There are two main types of CAH:
The Nonclassical form of CAH is not life threatening but can affect: (1) puberty and growth in children, and (2) cause infertility in males and females as well as other symptoms affecting quality of life.In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne.
The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness.
Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female.