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Newborn Metabolic Screening Program

Congenital Adrenal Hyperplasia

- An Endocrine Disorder:

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. 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.

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. Both classical and non-classical forms are "congenital" which means there is an abnormality in the genes that causes 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 into infancy, or can even surface in adulthood.

Inheritance and Frequency
CAH occurs in approximately 1 of every 12,000 births. Among Yupik Eskimos the incidence can be as high as 1 in 300 births.

Signs & Symptoms
Signs for females include ambiguous genitalia at birth. Baby boys may have no obvious signs but will often enter into puberty as early as 2-3 years of age.

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

Most forms of congenital adrenal hyperplasia are treated by use of medication