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California Newborn Screening Program

Congenital Adrenal Hyperplasia (CAH)

 

What is CAH?

Congenital Adrenal Hyperplasia is a disease your baby was born with (i.e. congenital) where the adrenal glands are enlarged (i.e.

hyperplasia) and do not produce the key stress-fighting hormone cortisol.

 

The adrenal glands are small organs that lay on top of the kidneys. These glands make several kinds of hormones. Hormones are

chemical messengers. They are produced in one part of the body and act somewhere else in the body. Hormones are important

for normal function and growth. Hormones affected by CAH include: Cortisol, Aldosterone, Androgens.

 

There are three types of CAH

How severe the enzyme shortage is will determine the type of CAH. There are 2 types of classical CAH and a non-classical form.

  • Salt-wasting CAH: The adrenal glands make almost no cortisol or aldosterone (the body’s salt-retaining hormone) and
  • too much androgen (male hormone).
  • Simple-virilizing CAH: The adrenal glands make enough aldosterone but not enough cortisol and too much androgen.
  • Non-Classical or NCAH is a milder form that often presents in childhood or later in which the body makes some cortisol,
  • normal amounts of aldosterone, and too much androgen.

What are the symptoms?

The following symptoms may mean your child is having an adrenal crisis:

  • Unusual tiredness and weakness
  • Dizziness when standing up
  • Nausea, vomiting, diarrhea, loss of appetite, stomach ache
  • If your child has these symptoms, contact your doctor, give an injection and go to a hospital right away.

If your child has these symptoms, contact you doctor, give an injection and go to a hospital right away.

 

What is the treatment?

CAH is treated by giving the baby the missing hormones its body can’t make. These hormones are given as medicine in the form

of pills. They include hydrocortisone and cortisone. There are several brands. For children with salt-losing CAH, fludrocortisone

(Florinef) must also be given to retain the correct salt balance. Also, salt is often given to these babies in the form of sodium pills,

table salt or a saline solution.

 

These pills need to be taken daily for life. The amount needed differs from child to child. Body size and the rate the body absorbs

the medicine will affect the dose needed. As the child grows, the dose will be adjusted as needed. The dose your baby needs will

be worked out by your baby’s doctors.

Parent Guide to CAH English   ...Spanish

 
 
Last modified on: 4/14/2014 2:30 PM