Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia

The adrenal gland is a small organ of the body. It produces very important chemicals called
hormones. One of these hormones, cortisol (the stress hormone) helps the body fight
diseases. The other hormone is the aldosterone helps to maintain the normal amount of salt
and water in the body. The third type of hormones are the androgens or male hormones, which
cause some of the changes during puberty, like the growth of body hair and pimples.

The salt wasting Congenital Adrenal Hyperplasia or CAH disease is a disease of the adrenal
gland. Patients with this disease cannot make cortisol or the aldosterone. As a result,
their body cannot fight diseases and cannot keep normal amounts of salt and water in the
body. At the same time, the gland makes too much of the male hormones, which is bad for the
body because too much male hormone slows down growth, increases the growth of body hair, and
causes pimples and abnormal period in girls.

Patients with this disease have to take medications every day. However, the treatment does
not work very well, because usually the patients do not have the right amount of hormone in
their body. Usually the body gets too much hormone right after taking the pills. A couple of
hours later the body has too little of the hormones, because in the meantime the body gets
rid of the medication.The healthy adrenal gland makes the hormones throughout the day in
different amounts. The patients with this disease take the medication only a couple of times
a day. They take the Florinef tablet once a day and the Cortisol tablet two or three times a
day. The treatment that we use today by mouth cannot copy the natural hormone productions of
the adrenal gland. Because of this it does not make much of a difference in the patient's
life.

We would like to improve the treatment and find out the effect of a new treatment. In this
study we will try to imitate the body's normal hormone production and will give the
medication via an insulin pump to see if this treatment method will decrease the male
hormones in the blood. This study will help us to develop a new and better treatment for
children and adolescents.

Inclusion Criteria:

- Children with salt wasting CAH otherwise healthy without other chronic disease

- Age: between 3 and 18 years of age

- Body weight 23 kg (50 lbs) or above

- Hemoglobin equal to or higher than 12 g/dl before the study

- Supportive family environment

Exclusion Criteria:

- Age less than 3 or older than 18 years at the time of study

- Other chronic disease

- Hemoglobin less than 12 g/dl

- Non-supportive family

- Allergy to local anesthetics

Criteria for study termination: If the subject's parents are unable to manage/operate the
pump, the subject will be withdrawn from the study.