Newborn Metabolic Screening Program
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.
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.
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.
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 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.
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