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Congenital adrenal hyperplasia (CAH) is a group of conditions impacting the adrenal glands.
Unlike some chronic conditions or illnesses, CAH is a genetic condition — meaning it is inherited and can be passed down from parent to child. In most types of CAH, the body is not able to make enough of an important enzyme known as 21-hydroxylase. In other, much rarer types, issues with other enzymes may cause CAH. Without the usual enzymes, the adrenal glands produce less cortisol, less aldosterone or less of both. They produce more androgens, such as testosterone.
There are two types of CAH — classic and nonclassic — and the difference between them is related to how much enzyme activity there is in the body, explains Aida N. Lteif, M.D., a Mayo Clinic pediatric endocrinologist.
“When there is no or very little enzyme activity in the body, we have more hormonal imbalance and symptoms. This causes the more severe form, called classic CAH,” says Dr. Lteif. “When there is more enzyme activity, we typically see the milder form of the condition, called nonclassic CAH.”
Although CAH is considered a rare disease, it’s important for parents to understand how CAH can impact their child’s growth and development.
What to know about CAH in infants
Classic CAH is typically found in infants at birth or shortly after. In most situations, classic CAH is diagnosed through routine newborn testing.
Additionally, it’s possible that the healthcare team might discover CAH after noticing physical signs of the condition. With classic CAH, a baby’s external genitals may not look typical. In female newborns, the clitoris may be enlarged and resemble a penis and the labia may be partially fused. Newborn exams in males usually don’t reveal anything that’s not typical, though sometimes the penis may be bigger than expected. For some infants, typically females, there also may be issues with the development of the urethra. In general, the internal reproductive organs, such as the uterus and ovaries, develop as expected.According to Dr. Lteif, these differences are a result of an overproduction of androgens. Androgens are sex hormones.
Finally, classic CAH is sometimes found when an infant begins to show signs of serious illness caused by low levels of cortisol or aldosterone or both. Without enough aldosterone, the body can’t maintain the proper levels of sodium needed. This is called salt-wasting CAH, a severe but common subtype of classic CAH.
“With the salt-wasting form, both the cortisol and aldosterone hormones are deficient,” says Dr. Lteif. “Cortisol helps the body respond to a physical stress like an illness and regulates our blood pressure and blood sugar. Aldosterone allows us to retain necessary salt from the kidney. If the body is not making enough cortisol and aldosterone, newborns present with hypoglycemia, low blood pressure, severe dehydration, low sodium in the blood and other symptoms.”When the body makes enough aldosterone but not enough cortisol, it does not lose the salt and water. This is called the simple-virilizing form of classic CAH. Virilization is the development of what’s considered “masculine” features, usually most noticeable in females. If left untreated, both types of classic CAH can cause a life-threatening adrenal crisis.
People with classic CAH need medication and a careful treatment plan throughout their lives to avoid adrenal crisis and manage their health. Although classic CAH is a lifelong condition, most people live healthy, full lives with proper treatment.
It’s important to note that nonclassic CAH — the milder form of CAH — is only rarely found on routine infant screenings. In fact, newborns often have no symptoms of nonclassic CAH.
What to know about CAH in older children
Both classic CAH and nonclassic CAH may cause symptoms as a child grows. However, for some people, symptoms of nonclassic CAH don’t appear until later childhood, adolescence or even early adulthood. Some people with nonclassic CAH may never experience any symptoms.
Children with either type of CAH who have symptoms may experience some differences in their growth rates. This is due to an increase in androgen hormones. It’s not unusual for these children to grow more quickly than their peers or have accelerated bone development. However, the child’s final height may be shorter than average. Dr. Lteif advises parents to talk with their healthcare team about whether their child’s rate of growth is appropriate for the developmental stage.
Due to having an increased level of androgen hormones, children with CAH may start puberty at an earlier age, have early hair growth in the armpit and pubic areas, and have severe acne. Additionally, girls may have irregular menstruation, a lack of menstruation, or develop facial hair, a deeper voice or more body hair than expected. Nonclassic CAH is sometimes confused with polycystic ovary syndrome (PCOS) because the two conditions have some similar symptoms.
“If you have an adolescent who has been diagnosed with PCOS, you may want to ask your physician about nonclassic CAH, particularly if there is a family history of adrenal conditions,” says Dr. Lteif.
Some people with CAH may have issues with fertility, including trouble becoming pregnant. Research estimates that about 10% to 15% of women with nonclassic CAH may experience fertility problems. It’s also possible that some boys with CAH may develop benign testicular tumors. As a result, Dr. Lteif says it’s a good idea for parents to speak to their healthcare team about ultrasound and other screening methods.
Treatment focus
It can be overwhelming to find out that your child may have CAH — but there are a number of effective treatments available, according to Dr. Lteif.
Children with CAH, particularly those with classic CAH, need medications for the rest of their lives to manage their hormone levels. To build the best treatment plan for your child, especially right after birth, Dr. Lteif recommends consulting with a multispecialty team to go over the options.
Some children, teens and adults with nonclassic CAH may never need treatment. When treatment is needed, Dr. Lteif says treatment often is focused on the symptoms of androgen excess, including rapid growth and bone maturation, early pubertal development, irregular menstruation, and acne or, at a later point in life, to support fertility and family planning.
Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.
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