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Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that impact the adrenal glands — organs that create important hormones like cortisol, mineralocorticoids and androgens.
There are two main types of CAH — called classic and nonclassic — and the symptoms can vary from nonexistent to life-threatening depending on the person, the type of CAH and the severity of the condition.
Classic CAH is the more serious form of the condition, according to Irina Bancos, M.D., M.S., an expert and endocrinologist at Mayo Clinic. Classic CAH can cause adrenal crisis, a life-threatening condition caused by low levels of cortisol in the blood. However, the risk of adrenal crisis is very low when classic CAH is treated properly. Classic CAH also can cause genitalia that is not typical or virilization, which is the presence of what are considered “masculine” features, usually most noticeable in females. This is due to too much androgen in the body. Classic CAH can also cause fertility issues.
Nonclassic CAH is the milder form of CAH. It may cause some early puberty symptoms, irregular menstruation and short stature, among other symptoms.
Both types of CAH can be effectively treated, says Dr. Bancos, and it’s important to understand what the treatment options may look like. In this Q&A, Dr. Bancos goes over the basics of CAH treatment and medications.
What causes CAH? What is the difference between classic CAH and nonclassic CAH?
Both classic and nonclassic CAH are caused by the same problem: 21 hydroxylase deficiency. Twenty-one hydroxylase is an enzyme needed to make certain hormones. If you want to get technical, the enzyme converts 17 hydroxyprogesterone to 11 deoxycortisol, and it is encoded by the CYP21A2 gene. The 21-hydroxylase deficiency ultimately leads to decreased cortisol production in the body and, as a result, androgen overproduction. Cortisol and androgens are important hormones for the body. The body uses cortisol to respond to illness or stress, and androgens are important sex hormones needed for growth and development.
Patients with classic CAH show symptoms at birth or early in infancy. Some people may have the more-severe salt-wasting form of CAH where the body’s cortisol and aldosterone production are extremely low. This form is called salt-wasting because the body can’t maintain proper sodium levels due to an aldosterone deficiency. With this form, the body may experience severe, possibly fatal dehydration and adrenal crisis, among other issues. Research estimates that about two-thirds of classic CAH cases are salt-wasting. About a third of classic CAH cases are not salt-wasting, so people present with virilization only.
Symptoms of nonclassic CAH — typically those of androgen excess — can become apparent as a child or adult. In childhood, this could include premature pubic hair development or accelerated bone maturation. Later in life, people may experience irregular menses, male-pattern hair growth (in women), acne or infertility. Some people are completely asymptomatic.
What are the treatment options for classic CAH? What should people know about their options?
Classic CAH is treated with cortisol supplements because people with the condition do not have sufficient cortisol production. This is a disorder called adrenal insufficiency. Cortisol supplementation also helps decrease androgen excess. In addition to managing adrenal insufficiency, your healthcare team may recommend additional hormone medications.
There are a few different options when it comes to medication. Supraphysiological cortisol — or high doses of cortisol higher than what the body should naturally produce — is needed in quite a few people to suppress androgen excess. But there can be a lot of side effects with this, including weight gain, osteoporosis, diabetes, high blood pressure (hypertension), frailty, undesirable cholesterol levels, insomnia and more. Treatment decision-making is based on balancing cortisol excess with androgen excess, and the treatment is individualized to each person and their circumstances.
Fludrocortisone, an aldosterone supplement, is one of the easier medications to manage, and it rarely requires frequent dose changes. Fludrocortisone is a hormone that keeps water and salt in the body and gets rid of potassium. To decide on the proper dose, monitoring of blood pressure, electrolytes and physical appearance — such as the presence of swelling — is needed to achieve optimal electrolyte balance.
Let’s talk about nonclassic CAH. What do treatment options and medications look like?
Some people with nonclassic CAH don’t need any treatment and may not have any symptoms. Other people, typically women and children, may be treated for symptoms of androgen excess. Men very rarely need treatment for nonclassic CAH.
In children, cortisol therapy may be needed if they experience early puberty or accelerated bone maturation. In women, combined estrogen and progestin oral contraceptives are usually the first line of therapy to counteract symptoms of androgen excess. In addition, antiandrogen medications such as spironolactone can be used. Cortisol supplements can also be used if these non-cortisol medications are not tolerated or to induce ovulation and increase fertility.
How can people determine the best treatment plan for their condition and lifestyle? What do you recommend people consider and discuss with their healthcare team?
Because CAH therapy is individualized to the individual’s concerns, choosing the right therapy, dose and monitoring plan is important to do through a shared decision-making process between you and your healthcare team.
Understanding CAH and understanding adrenal insufficiency, if present, is also very important because independent self-management away from your medical team is part of managing your condition and staying well. This means that education plays an important role, and individual circumstances are especially important to discuss during visits.
For example, people who are night shift workers may need a modification in their cortisol replacement timing. People who are marathon runners may need a specific modified cortisol replacement plan during times of strenuous exercise. Pregnancy planning is important as well, because optimizing CAH therapy to allow for optimal fertility and healthy pregnancy needs to be done ahead of time.
During your appointments, review your symptoms, discuss your lifestyle and circumstances, open up about any personal concerns or confusion about your treatment, and talk about your future plans. Consider preparing questions in advance to allow for careful discussion and the most efficient advice.
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