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Congenital adrenal hyperplasia, or CAH, is an inherited genetic disorder that affects the adrenal glands and can affect the production of three hormones – cortisol, aldosterone and androgen.
Cortisol regulates the body's response to illness or stress; aldosterone regulates sodium and potassium levels; and androgen is a male sex hormone.
Females born with this condition may have atypical genitalia which often includes an enlarged clitoris, but they have normal internal reproductive organs. Males generally have traditional-appearing genitals.
One form of the disease – called "salt-wasting" CAH – can be life-threatening due to a salt imbalance that can cause dehydration, low blood pressure and shock. This form involves lifelong medicine to help control the adrenal glands.
CAH is hereditary. A child with CAH has parents who have "recessive" genes that mean their children have a significant chance of being born with the condition. People in certain ethnic groups – particularly Ashkenazi Jews, Hispanics, Italians, Yugoslavians and Yupik Inuits – have a higher chance of having CAH.
CAH affects both boys and girls equally. About one in 10,000 to one in 18,000 children are born with it.
There are both "classical" and "non-classical" forms of CAH. In the salt-wasting CAH – one type of classical CAH – the adrenal glands make almost no cortisol or aldosterone and too much androgen. In another type of classic CAH, the glands make sufficient aldosterone but too much androgen and not enough cortisol. Babies that are born with CAH have classical CAH; about two-thirds of babies that have classical CAH will have the salt-wasting form.
Non-classical CAH is a milder form that often presents in childhood or later.
Classical CAH is usually detected at birth through the newborn screening blood test or when female babies are born with atypical genitalia.
Babies who have the more severe form of classical CAH are at risk for losing salt and becoming severely dehydrated in the ﬁrst 10 to 20 days of their life if their condition goes untreated. This is a life-threatening medical condition that needs immediate treatment. Symptoms might include diarrhea, vomiting and low blood sugar levels.
Later signs of CAH include very early appearance of pubic hair and rapid growth during childhood. As adults, people with CAH are shorter than average.
Children with milder forms of CAH may not have signs or symptoms and may not be diagnosed until as late as adolescence.
Medical experts can perform a prenatal test to diagnose CAH in a fetus if siblings have the condition or parents are known to carry the defective gene.
CAH is one of the diagnoses that is included in the newborn screening in all 50 states. When all babies are born, health care providers perform a heel stick to take a blood sample. This blood is tested for conditions that are life-threatening so doctors can diagnose them as early as possible.
This test does not identify non-classical CAH – symptoms for which often appear later.
Doctors treat CAH by giving the newborn the missing hormones its body is not producing. They provide these hormones in either liquid or pill form. For children with salt-wasting CAH, doctors provide another kind of medicine to ensure the child retains the correct salt balance.
This medicine needs to be taken daily for life. The amount needed varies from person to person.
People with non-classical CAH may not require treatment or may need only small doses of medicine.
Your child's doctor will also perform periodic physical exams to monitor your child's growth and any side effects from the medicine.
In some cases of girls with atypical genitals, information on reconstructive surgery may be provided to the family.
Psychological support can also be very important for patients with CAH, especially for females, as they are at risk for having more emotional difficulties later in life.
A child born with CAH will always have it. However, most people with CAH have typical, healthy lives and a normal life expectancy by continuing to take their hormone replacement medication and managing the disease well.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices.