- weight loss
- poor weight gain
- low bone density
- severe acne
- elevated cholesterol
Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that affect the adrenal glands. The adrenal glands produce the hormones cortisol and aldosterone. Each person has two of these glands, one on top of each kidney. Cortisol is sometimes called the stress hormone because it is released when you are under stress. It helps control blood sugar. Aldosterone helps the kidneys to function. Congenital adrenal hyperplasia is caused by genetic defects that prevent these glands from producing these two hormones either entirely or at normal rates.
The defect that causes CAH is passed down from both parents to their offspring. According to the National Institutes of Health, CAH occurs in around 1 out of every 10,000 to 18,000 children (NIH).
According to the National Adrenal Diseases Foundation, classical CAH accounts for around 95 percent of all CAH cases (NADF). It mainly occurs in infants and young children. The adrenal glands normally produce essential hormones called cortisol and aldosterone with the help of an enzyme known as 21-hydroxylase. With classical CAH, this enzyme is missing. This means that your adrenal glands can’t make these hormones.
In addition, your body starts making too much of a male sex hormone called androgen. This causes masculine characteristics to appear in girls and develop early in boys. These characteristics include being tall for your age, having a deep voice, and early growth of pubic or armpit hair. Although as a child CAH can make you taller than other children, as an adult you would be considered a little shorter than normal.
Nonclassical or Late-Onset CAH
Nonclassical or late-onset CAH is a milder type that occurs in older children and young adults. This type is caused by a partial enzyme deficiency instead of having the enzyme entirely missing. If you have this type of CAH, your adrenal glands can make aldosterone, but not enough cortisol. Androgen levels are also lower in late-onset CAH.
There are other types of CAH, but they are very rare. These include 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid dehydrogenase deficiencies.
Infant girls with classical CAH typically have genitals that appear masculine, such as a larger clitoris. Some infant boys have an enlarged penis. Other signs that occur in babies include:
Children with classical CAH often go through puberty earlier than normal. They also grow faster than other kids but end up being shorter than other people by the time they stop growing. Women with this type of CAH usually have irregular menstrual cycles. Both women and men may experience infertility.
Nonclassical or Late-Onset CAH
Occasionally, people with this type of CAH don’t experience any symptoms at all.
Girls and women with late-onset CAH may have irregular periods or a lack of menstruation, male characteristics such as facial hair or a deep voice, as well as infertility.
Some men and women with this type of CAH start puberty early and grow rapidly when they’re young. As with classical CAH, they are usually shorter than average when fully grown.
Other signs of nonclassical CAH in men and women include:
If you have classical CAH, you could suffer from a serious condition called an adrenal crisis. This causes you to have a dangerously low sodium level in your blood, which can be life threatening. Other signs of this condition include dehydration, diarrhea, vomiting, shock, and low blood-sugar levels. This condition requires prompt medical attention.
The most common form of treatment for CAH is taking a replacement hormone medication on a daily basis. This helps bring your affected hormones back up to normal levels and lessens any symptoms.
You might need more than one type of medication or a higher dose of your regular hormone replacement when you’re sick or dealing with excess stress, as illness and stress can affect your hormone levels. You can’t outgrow CAH. People with classical CAH will require treatment for the rest of their lives. Nonclassical CAH patients might not need treatment when they become adults, as their symptoms may be less noticeable with age.
Girls between the ages of 2 and 6 months can have surgery (called feminizing genitoplasty) to correct the overly masculine appearance of the genitals. This procedure might need to be repeated when they’re older. Women who have had this procedure are more prone to feeling pain during intercourse or experiencing a loss of clitoral sensation later in life (Crouch, et al,. 2004).
If you have classical CAH, it’s normal to have concerns about your physical appearance and how your condition affects your sex life. As a woman, your embarrassment could prevent you from entering into sexual relationships. Pain and fertility are also common concerns. It’s normal to feel uncomfortable talking to your partner about these concerns. Your doctor may be able to refer you to a support group or counselor to help you cope with the condition. Having an unbiased listener or others with the same condition to relate to can help lessen the emotional issues related to CAH.
If you’re pregnant and any type of CAH runs in your family, you might want to go for genetic counseling. Your doctor can examine a small piece of your placenta during your first trimester to check for CAH. In your second trimester, your doctor can measure the hormone levels in your amniotic fluid to determine if your baby is at risk. When your baby is born, the hospital can test for classical CAH as part of your newborn’s routine screenings.
If your baby is diagnosed with CAH in utero, your doctor might suggest that you take a corticosteroid while you’re pregnant. This type of medication is often used to treat inflammation, but it can also limit the amount of androgens produced by your baby’s adrenal glands. This can help your baby develop normal genitals if she’s a girl. If your baby is a boy, your doctor will use a lower dose of the same medication for a shorter period of time. This method isn’t widely used because the long-term safety of it for children isn’t clear. It can also cause unpleasant and potentially dangerous side effects in pregnant women, including high blood pressure and mood swings.