CAH

Congenital Adrenal Hyperplasia (CAH)
An Endocrine Disorder

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What is it?
Congenital Adrenal Hyperplasia (CAH) is caused by a missing enzyme needed for the body to function properly causing overproduction of male hormones. CAH refers to a set of inherited disorders that occurs in both males and females as a result of the excess production of male hormones.

The most common type of CAH results from low production of an enzyme of the adrenal gland called 21-hydroxylase. Both classical and non-classical forms are "congenital" which means there is an abnormality in the genes that cause CAH, and people are born with it. The classic form initiates while the baby is still forming in the womb, and its symptoms are present in the newborn, while the non-classical form is often referred to as "late-onset" CAH because it presents later in infancy, or it can even surface in adulthood.

Inheritance and Frequency
Classical CAH occurs in approximately one of every 15,000 births, while the non-classical form is found in about one in 100 births.

Signs & Symptoms
The most common type of CAH results from low production of an enzyme of the adrenal gland called 21-hydroxylase. Mild forms of the disease (called "non-classical") result in symptoms such as severe acne, excess facial and/or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females, and infertility in both males and females. More severe forms of the disorder (called "classical" CAH) can result in ambiguous genitalia in a newborn girl, as well as severe salt and hormonal imbalances in both girls and boys.

Long Term Effects
If not treated, CAH can cause heart failure and death within a few days from birth. Although CAH cannot be cured, it can be effectively treated.

Treatment
Most forms of congenital adrenal hyperplasia are usually treated by use of medication.
Prenatal therapy with a synthetic hormone called dexamethasone throughout pregnancy can allow proper development of the external genitalia in female fetuses. Affected girls are then born with normal external genitalia and do not require corrective surgery.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter the state of your residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

Congenital Adrenal Hyperplasia Research,
Education and Support Foundation (CARES Fdn)
2414 Morris Avenue, Suite 110
Union, NJ 07083
Contact Person: Kelly R. Leight
Phone: toll free (out of state) 1-866-227-3737 or in NJ 1-973-912-3895

Congenital Adrenal Hyperplasia
Education and Support Network
Contact CAH Ed/Support Network

MAGIC Foundation for Children's Growth (MAGIC)
1327 North Harlem Avenue
Oak Park, IL 60302
Phone: 708-383-0808 or toll-free 1-800-362-4423

National Adrenal Diseases Foundation (NADF)
505 Northern Blvd.
Great Neck, NY 11021
516- 487-4992
Contact NADF

MUMS - National Parent-to-Parent Network

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Revised 01/07/2007