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Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) disorders interfere with three hormones made in the adrenal glands. In CAH disorders, the body’s two adrenal glands have an enzyme-making defect. The defect in the genes must be inherited (passed down) from both parents. Without a needed enzyme or enough of one of the enzymes, the adrenal glands can have trouble making the following hormones:

  • Cortisol: Cortisol affects energy levels, sugar levels, blood pressure and the body's response to illness or injury. Generally in CAH, not enough cortisol is made.
  • Aldosterone: Aldosterone-making can also be dangerously low. There may not be enough to keep the amount of salt and water normal in the blood. 
  • Androgens: When the body struggles to make cortisol, it makes more androgens. Too much or too little of these male hormones alter the genitals in both males and females. Having too much has other masculinizing (virilizing) effects as well.
With the right care, children can have full and healthy lives. The Division of Endocrinology cares for children with all three main types of this inherited disorder — from the mild, non classic form to the simple virilizing and severe salt-losing types. We also care for children with rarer types of this disorder. The Gender and Sex Development Program also cares for children with this disorder.

Salt Loss

In some types of CAH (salt-losing types), the adrenal glands can’t make enough aldosterone. This hormone manages the levels of fluids, sodium and potassium. The body may not be able to hold on to enough salt. The salt leaves the body in the urine.

  • Infants: Infants with severe salt-wasting need urgent help. They have symptoms such as vomiting, diarrhea and dehydration and may die without medical care. 
  • Illness, infection and surgery: Throughout life, planning and treatment aim to manage hormone levels and prevent an adrenal crisis when the body is greatly stressed.
Families, caregivers and the children themselves need to watch out for an adrenal crisis — which is a seriously low level of sodium in the blood, diarrhea, vomiting, dehydration, low blood sugar levels and shock. These life-threatening emergencies need immediate treatment. 

Masculine Effects

In some types of CAH (viralizing types), the lack of cortisol makes the androgens overproduce. When this happens, girls can be born with genitalia that is somewhat male and female. Girls may develop some male features. In boys, one symptom is large genitalia.

Girls generally take hormones every day for life, and surgeries can help correct girls’ anatomy. Boys’ health issues, including growth issues, can usually be met in ongoing checkups.

Later Effects

Sometimes, a milder disorder isn’t diagnosed until puberty or later. This may happen with the non classic form and in a classic CAH disorder that doesn’t involve salt loss. Pubic hair may grow early. Also, the child grows unusually rapidly, but his or her final height is shorter than average. Other symptoms may affect the quality of life after puberty. For example, girls can develop unwanted body hair, severe acne and irregular menstrual periods. As adults, females and, less often, males may be infertile.

Classic CAH occurs in one in 16,000 births. In infants with classic CAH, about three out of four have the salt-losing, virilizing form, which can be life-threatening, and one in four have the simple virilizing form.

Non classic CAH is common. One in every 1,000 people has non classic 21-hydroxy¬lase deficiency. Rates are higher in Ashkenazic Jews, Hispanics, Yugoslavs and Italians. This form, which is mild and not life-threatening, may cause symptoms anytime from infancy to early adulthood.

Diagnosis & Treatment

Symptoms

The symptoms of CAH vary by age group.

In babies, you may see these symptoms:

  • Drowsiness
  • Poor feeding
  • Pale skin
  • Abnormal genitalia
  • Poor growth
  • Abnormal newborn screening test results

In older children or adults, you may see these symptoms:

  • Early puberty
  • Tall stature in children
  • Menstrual abnormalities in females
  • Infertility

Treatment

CAH can be treated by giving the body a steroid, such as hydrocortisone or prednisone. These are similar to cortisol. Taken throughout life, these oral medicines (pills or liquids) replace the missing cortisol. Pediatric endocrinologists must carefully monitor the child’s hormone levels.

The family can think about corrective surgery. The child should wear a medical alert bracelet or necklace. Wearing this helps the child get correct treatment in emergencies.

When the child has salt-losing CAH, we teach families what to do for illnesses, infections and surgeries. These put a lot of stress on the body. Each time the child is ill, the physician must be asked how to adjust the medications. Caregivers learn how and when to inject hydrocortisone, a medicine used for such times.

If the medicine isn’t on hand, the child must get urgent treatment in a hospital emergency department. Our team of caregivers help educate and prepare family members; caregivers; and school, camp and daycare personnel on what to do in emergencies.

As children mature, we help them transition to taking the medicines themselves and addressing personal issues that affect them.

Support

Our specialists help children and families learn to cope with the issues this disorder presents (medical, gender and growth, for example). The family may need time and information after the birth to think about issues of the child’s sexual identity. In the first months of life, as illness develops or questions about surgery arise, families often look to our experience. Parents concerned about future children may seek genetic counseling. Our team and resources also help adolescent boys and girls learn to cope with new issues they face.

Programs 

The teams in the Division of Endocrinology and the Gender and Sex Development Program treat CAH.

Teens and families can learn about the transition from pediatric to adult care by reading about our SAILS (Supporting Adolescents with Independent Life Skills) program and our transition clinic.

Resources

Visit the following websites for more information on CAH:

​Make an Appointment

The following divisions treat congenital adrenal hyperplasia. 

Visit their pages to learn about their approach to care and to make an appointment.