Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is one of the most common disorders of sex development (DSD). DSD describes a group of conditions in which the genitals or reproductive parts do not develop in a typical way.  

CAH is a problem of the adrenal glands. The adrenal glands sit on top of the kidneys and make three types of hormones (chemical signals): cortisol, aldosterone and androgens. 

  • Cortisol controls energy and blood sugar levels, and is needed for life. 
  • Aldosterone controls salt and water levels, and is also needed for life. 
  • Androgens (male sex hormones such as testosterone) cause male-type changes during puberty in both girls and boys.  These changes include body hair in the armpits and genital area, body odor and acne.   

CAH results when there is a problem in making one or more of these hormones. When the adrenal glands are not able to make enough cortisol and aldosterone, the body makes too much androgen instead. 

CAH can be masculinizing, feminizing, salt-wasting or non-salt-wasting.

  • Too much male sex hormone in girls can make their genitals look more like a boy’s (masculinizing). 
  • Too little male sex hormone in boys can make their genitals look more like a girl’s (feminizing). 
  • Too little aldosterone causes salt-wasting. 
  • Some people do not have salt-wasting if they make enough aldosterone. Usually people with non-salt-wasting CAH have a milder form of the condition.

Causes

CAH is an inherited condition that people are born with. Normally, there are enzymes (proteins in the body that cause chemical changes) needed for the adrenal glands to make cortisol and aldosterone. One of these enzymes is either missing or not working properly in people with CAH.  

  • If the enzyme is missing or not working at all, neither cortisol nor aldosterone will be made.
  • If the enzyme is only partially working, cortisol will be made in smaller-than-needed amounts.
  • If there is a “block” causing too little cortisol and aldosterone, there may be a “backup” of other hormones. This can cause too much androgen.

Symptoms

Serious / Life-Threatening Symptoms 

Symptoms of CAH may be caused by:

  • Too little cortisol
  • Too little aldosterone
  • Too much androgen   

Cortisol helps the body react to stress and is important for controlling blood sugar and energy supplies. Aldosterone regulates salt and water balance. Low cortisol and aldosterone levels are the reason that newborns will become very sick without treatment. This is called an adrenal crisis. An adrenal crisis can occur at any age and can be life-threatening.           

Signs of adrenal crisis include:

  • Poor feeding or appetite
  • Vomiting
  • Diarrhea
  • Sleepiness
  • Weak cry in infants
  • Dehydration
  • Low blood pressure
  • Weight loss
  • Poor growth 

General Symptoms

Baby boys usually look normal at birth. They may show signs of CAH after the first few days of life.

Baby girls may have an enlarged clitoris and fused labia that look like a scrotum. (CAH does not affect the internal reproductive parts).

Some children with a mild form of CAH may not show any symptoms until they are older. This form is called “late onset CAH.” 

In children and adults with CAH, the extra male hormones may cause the following symptoms:

  • Rapid growth
  • Advanced bone age
  • Short height as adults due to rapid bone growth in childhood
  • Early development of acne and body hair
  • Excess body hair and/or acne in girls or women
  • Menstrual and fertility difficulties in girls or women

Treatment

Treatment for CAH is life-long and requires daily hormone replacement.

  • Cortisol hormone replacement is given as oral hydrocortisone (Cortef).
  • In the salt-wasting type, aldosterone replacement is given as oral fludrocortisone (Florinef).
  • These treatments for CAH will help androgen levels come down to normal.

Parents may ask for surgery to make the genitals look and function normally, but this surgery can wait until the girl is old enough to make her own decisions. And not having surgery is an option for some patients. Experienced surgeons (gynecologists and urologists) perform this surgery when requested after a team of doctors talks with you about all of your options to create specific treatment for your child.

Care

All children with CAH get routine office visits to the endocrinologist (hormone doctor) to check growth and hormone levels. 

If a girl has an enlarged clitoris and fused labia or male-appearing genitals at birth, she will need to see other specialists (for example, gynecologists, urologists). When care involves several specialists, a DSD team is helpful for coordinating follow-up care. 

Effect of Stress on CAH

Illness or physical stress may affect everyone’s health. People with CAH do not make enough cortisol to help the body recover from illness or injury. If any of the following symptoms develop, they will need larger amounts of cortisol to heal:

  • A fever higher than 100 degrees
  • Infections in the throat, ears, lungs, or urinary tract
  • Broken bones
  • Vomiting / diarrhea 

This extra cortisol is known as the “stress dose.” This is usually given by mouth. When a person with CAH has vomiting or diarrhea, the cortisol will not be absorbed by their gut, and the stress dose will need to be given as a shot into the muscle.

When to Call the Doctor

  • Call the doctor for fever >100 degrees, infections, vomiting / diarrhea, broken bones
  • If you have questions about giving your child a stress dose of cortisol
  • If you have given your child a stress dose of cortisol more than three days in a row
  • If your child’s illness or condition has not improved after getting several stress doses of cortisol
  • If you need to review how to give the shot of the cortisol stress dose

Special Instructions for Emergencies

If your child is pale, sweaty, breathing fast, unable to respond normally, loses consciousness, or has a serious injury, this is an emergency and you should:  

  • Give the cortisol shot as instructed by your doctor or nurse and call 911. 

This can be a life-threatening emergency, and your child needs the shot of rapid-acting cortisol immediately.

Preventive Action

Parents need to learn how to give a cortisol shot to prevent a life-threatening emergency. 

To be prepared for an emergency:

  • Have a bottle of cortisol (for shots) and carry it with your child at all times. 
  • Have your child wear personal identification, such as a MedicAlert bracelet, that states he or she has CAH. 
  • Have the physician’s phone number posted by phones and saved in cell phones of all caregivers.

Long-Term Outlook

Children with CAH can participate fully in school activities, sports and social events. With good treatment, girls and women with CAH can have regular menstrual cycles and have children. 

With good treatment, people with CAH should be healthy and have a normal life span. Treatment is life-long. Beyond childhood, it is important to continue care with a doctor or team to maintain treatment for CAH.

Last Updated 06/2017

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