Without treatment, as the child with CAH grows, further masculinization of features occurs, such as a deepening in the voice, facial hair and failure to menstruate or abnormal periods at puberty. Males born with this condition have normal genitals at birth. But these males may become more muscular or develop pubic hair and a deeper voice well before puberty.

If doctors suspect CAH on the initial newborn exam, the baby will be examined by pediatric specialists in urology and endocrinology right away. An accurate diagnosis can be made only after doctors take a detailed family history and perform a series of exams and tests that could take several days.

The examination includes a pelvic ultrasound. Here, doctors will look for female reproductive structures, such as a cervix, fallopian tubes and a uterus. The baby will also undergo a series of blood tests, including a test to determine the level of sex hormones in the blood as well as a chromosonal analysis (called karyotyping) to determine the genetic sex of the baby.

Some babies may need to undergo a genitogram, which allows doctors to visualize the outline of the reproductive structures. For this test, a contrast agent is injected into the reproductive tract and under X-ray imaging, doctors can visualize the outline of the reproductive system. In some cases, doctors will want to perform a gonadal biopsy.

The first goal of treatment for CAH is to return the baby's androgen levels to normal. The newborn will immediately be put on the proper hormonal replacement, including a cortisone like medication called glucocorticoid, to make-up for cortisone deficiencies. For patients who are salt-wasters, flurdocortisone is also administered. Lifelong hormone replacement is required.

Once hormonal therapies are in place, a plan to correct any significant ambiguity of the genitalia by reconstructive surgery (feminizing genitoplasty) is made in consultation with the baby's parents.

Doctors at Children's Hospital prefer to do the reconstructive surgery between the ages of 3-6 months after the baby has had the chance to stablize medically and the risks of anesthesia are reduced. This waiting period also allows the clitoris to reduce in size through steroid management alone.

The surgery involves the exterorization of the vagina, which can be located at various depths along the genitourinary tract and reduction in the size of the clitoris. (clitoroplasty)

The prognosis for these patients is good, as long as patients remain on hormone replacement therapy. Over the long-term patients are monitored regularly by a pediatric endocrinologist and pediatric urologist.