Congenital adrenal hyperplasia (CAH) is a genetic disorder in which the two adrenal glands (located at the top of the kidneys) do not function properly. CAH is caused by genetic defects in the proteins and enzymes involved in cortisol biosynthesis. The most common mutation is in the gene encoding the adrenal steroid 21-hydroxylase, which is an enzyme responsible for converting cholesterol to cortisol within the adrenal glands. Without this enzyme, the adrenal glands may produce too little cortisol and/or aldosterone and too much androgen.
Endocrine Connections
Classic CAH is usually diagnosed in infancy or early childhood and is the most severe, life-threatening type. In one form of classic CAH, called “salt-wasting” (meaning the body has trouble keeping the right amount of salt in the blood), the adrenal glands do not make enough cortisol and aldosterone. If not found and treated, classic CAH can cause shock, coma, and death.
Nonclassic CAH is a more common, less severe condition in which there is still some adrenal steroid 21-hydroxylase enzyme activity remaining. It is usually diagnosed in later childhood or adulthood. Nonclassic CAH does not cause “salt-wasting.” Symptoms of nonclassic CAH include early puberty in children and irregular menstrual periods, acne, and/or unwanted hair growth in women.
Newborns are screened for CAH with a blood test from a heel prick right after birth. Sometimes, when there is a known family history of CAH, a fetus is diagnosed before birth. Diagnosis may include:
A history and physical examination
Blood test
Genetic test
CAH is a type of inherited disorder, meaning a disorder that can be passed from parents to their children. It is an “autosomal recessive” disorder, meaning that affected children must inherit an abnormal copy of the gene from each of their parents in order for the child to have the disorder. Therefore, for a child to have CAH, each parent must either have CAH or carry an abnormal gene. One abnormal copy of the gene (“a carrier”) does not cause CAH. If two parents have the gene for CAH but not the disorder, then their children have a 25 percent chance of being born with CAH. Each sibling without CAH has two chances in three of being a carrier. Tests can be done to find out if someone is a carrier of CAH.
Classic CAH
In many cases, female infants are diagnosed at birth because they have ambiguous genitalia (external sex organs that resemble male genitals). However, they still have normal internal female organs (ovaries and uterus).
A male infant with classic CAH usually appears normal at birth, although he may have an enlarged penis. After infancy, boys with classic CAH grow rapidly and show signs of early puberty.
If infants with CAH are not diagnosed at birth, they may suffer from weight loss, vomiting, dehydration, diarrhea, changes in body chemistry, shock, heart problems, and coma. Undiagnosed classic CAH can be life-threatening.
Nonclassic CAH
Signs and symptoms in both males and females include:
Early development of armpit and pubic hair
Early or severe acne
Infertility or decreased fertility
Adolescent girls and adult women also may have:
Masculine characteristics such as facial hair and a deep voice
Infrequent or absent menstrual periods
Classic CAH
The goals of treatment are to ensure proper hormone levels and promote normal growth, sexual development, and sexual function. Patients with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery, mental health, and genetics.
Individuals with classic CAH are treated with medications called glucocorticoids to replace the cortisol their bodies can't make. Extra glucocorticoids may be needed during times of stress, such as when a patient is sick with an infection. Individuals with classic CAH, especially those with the salt-wasting form, also need medicines called mineralocorticoids to replace the aldosterone they can’t make. Newborns also may need sodium chloride (salt) supplements.
Surgery can correct ambiguous genitalia in girls. Parents may choose to delay surgery until the child is old enough to help make the decision. Thus, genital reconstructive surgery should incorporate the shared decisions and values of parents, patients, surgeons, endocrinologists, mental health providers, and support groups.
It is important that children with CAH and their caregivers seek mental health treatment to address any CAH-related psychosocial concerns. An important goal of CAH therapy is to improve mental health monitoring and quality of life.
Nonclassic CAH
Some patients have no symptoms and require no treatment. Others need low-dose glucocorticoids (which might help with fertility) but might not need life-long treatment.
With proper care, people with either type of CAH can live long and healthy lives. In the meantime, researchers continue to explore better ways to diagnose and treat this condition.
What kind of CAH does my child (or do I) have?
What is the daily management for this condition?
What are the options for treatment for my child (or for me)?
What are the risks and benefits of each of the treatment options?
Should I see a pediatric endocrinologist (or an endocrinologist)?
Should I (or my child) have genetic testing for carrier identification of CAH?
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Our physician referral directory is comprised of over 6,500 members of the Society. The referral is updated daily with clinicians who are accepting new patients.
