Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 5 minutes
When a baby is born, the doctor will take a blood test to screen for several inherited medical conditions. They are looking for anything that requires early treatment, to better manage health and ensure a high quality of life! One of those potential conditions is called Congenital Adrenal Hyperplasia (CAH). This is a genetic condition that affects the production of hormones in the adrenal glands. These hormones play essential roles in a few bodily functions, including metabolism, immune response, and sexual development.
So - what should you look for as a parent in your child if they have been diagnosed with or are suspected of having CAH? What are the important things to know? PatientsLikeMe has a medically reviewed guide.
What is Congenital Adrenal Hyperplasia (CAH)?
To better understand the disease, let's break down each word.
- Congenital: Present at birth.
- Adrenal: Involving the adrenal glands.
- Hyperplasia: The adrenal glands are overgrown.
CAH is caused by genetic mutations that disrupt the production of certain enzymes needed to make hormones in the adrenal glands. This disruption leads to imbalances in hormone levels, particularly cortisol and aldosterone, and an overproduction of androgens, male sex hormones. There are a few different types of CAH, ranging in severity. These types are dependent on the which hormones are affected.
Knowing what’s going on inside the body can help explain congenital adrenal hyperplasia (CAH) symptoms.
Watch now: Why don’t I feel good?
There’s a range of CAH signs and symptoms.
People with CAH make too little cortisol and aldosterone, while producing too many androgens. These hormone imbalances affect the body’s ability to function properly. Learn more about the range of CAH signs and symptoms and how steroids help treat both cortisol deficiency and androgen overproduction.
Learn more about these key hormones at: whatthecah.com.
Signs and Symptoms
The symptoms of congenital adrenal hyperplasia can vary depending on the severity of the condition and the specific hormones affected. There are three primary ways CAN can throw the body out of balance. A lack of cortisol, a lack of aldosterone, or too much androgen. These are three hormones the adrenal glands produces. An imbalance in each of these leads to different symptoms.
Lack of Cortisol
Cortisol is a steroid hormone the body releases when it experiences stress. It has a wide range of functions, including regulating blood sugar, suppressing inflammation, and helping with the sleep-wake cycle. When the body does not have enough of this hormone, it cannot keep blood pressure and blood sugar at healthy levels. It can also lead to illnesses during times of physical stress.
Lack of Aldosterone
This is also known as "salt-wasting" CAH. It occurs about 75% of the time for children with the condition. Aldosterone is the hormone that controls the balance of water and salts in the kidneys. Without it, a large amount of salt is lost through the urine. This can cause repeated vomiting, dehydration, extreme muscle weakness, and a weakness of the heart muscle. It can also lead to poor growth.
Too Much Androgen
Androgens are sex hormones that occur in both men and women, but more commonly in men. They help with reproductive health and body development. If this hormone is overproduced, it can affect the baby even before birth. In females, the external genitals may take on a male appearance. However, the internal organs are unaffected. An excess of androgen can cause acne, a rapid growth rate, and early pubic hair development. Effects continue into adolescence, and if untreated CAH will affect menstrual periods and sperm production.
Treatment
CAH requires treatment for life. Depending on how it affects the body, there are different types of treatment that can help. At a young age, the most common approach is hormone replacement therapy. This technique restores missing hormones in children with the condition. A drug class called glucocorticoid medications can increase cortisol levels and decrease androgen production. There is another medication type, synthetic mineralocortoids, which can help maintain normal salt levels.
Pediatric endocrinologists can help monitor the child to ensure normal growth and development. They typically check in on their progress every three to four months. As the child ages, the medication dosage and type will change!
All children with CAH will need to have routine doctor visits. An endocrinologist helps treat people with hormone disorders. Furthermore it is also common for females born with CAH to see other doctors like a gynecologist and urologist. This kind of multidisciplinary approach helps create the best possible care plan and deliver effective treatment.
Early recognition of signs and symptoms of CAH is crucial for prompt diagnosis and management of the condition. Understanding the differences between boys and girls can help you identify and treat the disorder effectively. With appropriate medical care, individuals with CAH can lead healthy and fulfilling lives.
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