Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, which are responsible for producing vital hormones such as cortisol, aldosterone, and androgens. The most common form of CAH is due to a deficiency in the enzyme
21-hydroxylase, which is crucial for cortisol production.
What are the Symptoms of CAH?
Symptoms of CAH can vary depending on the severity of the enzyme deficiency. In the classic form, symptoms may appear in newborns and can include:
Ambiguous genitalia in females
Early signs of puberty in both sexes
Rapid growth during childhood but shorter than average adult stature
Severe cases may present with
adrenal crisis, characterized by vomiting, dehydration, and low blood pressure
Non-classic or late-onset CAH may present milder symptoms such as early puberty, severe acne, or menstrual irregularities in females.
How is CAH Diagnosed?
Diagnosis of CAH is typically confirmed through
newborn screening tests that measure hormone levels in the blood. Elevated levels of 17-hydroxyprogesterone often indicate CAH. Further confirmatory tests include genetic testing and hormone level assessments.
The primary treatment for CAH involves hormone replacement therapy to balance hormone levels. This may include:
Glucocorticoids such as hydrocortisone to replace cortisol
Mineralocorticoids like fludrocortisone to maintain salt balance
Salt supplements, particularly in infants
In some cases, surgical intervention may be necessary to correct ambiguous genitalia in females. Psychological support and long-term follow-up are also essential components of managing CAH.
How Does CAH Affect Growth and Development?
Children with CAH may experience rapid growth initially due to elevated androgen levels, but without proper treatment, they often have a shorter adult stature. Hormone replacement therapy helps manage growth and development, ensuring children reach their potential height and undergo normal puberty.
Can CAH be Prevented?
Currently, there is no way to prevent CAH as it is a genetic condition. However, genetic counseling can help families understand the risks and implications if there is a history of CAH. Prenatal testing can also detect CAH in fetuses, allowing for early intervention and planning.
What are the Long-Term Considerations for Children with CAH?
Long-term management of CAH involves regular monitoring of hormone levels and adjusting medications as needed. Children with CAH should have routine follow-ups with a pediatric endocrinologist. They may also benefit from psychological support to cope with the social and emotional aspects of the condition.
