About Congenital Adrenal Hyperplasia Treatment

Congenital adrenal hyperplasia (CAH), also known as CAH, is a genetic disorder characterized by improper functioning of the two adrenal glands located at the top of the kidney due to mutations in the gene encoding adrenal steroid 21-hydroxylase enzyme.

In the absence of this enzyme, the adrenal glands may produce insufficient cortisol and/or aldosterone, while producing excessive androgen.

CAH is an autosomal recessive inherited disorder, meaning it can be passed from parents to their children.

Symptoms

If left undiagnosed, symptoms of classic salt-wasting CAH may manifest within days or weeks of birth, potentially leading to fatal outcomes. Symptoms may include:

• Metabolic acidosis
• Dehydration
• Poor feeding
• Diarrhea
• Vomiting
• Arrhythmias
• Low blood pressure
• Low blood sodium levels

Causes

The most common cause of CAH is a deficiency in the enzyme 21-hydroxylase. CAH may also be referred to as 21-hydroxylase deficiency. This enzyme is essential for hormone production, and there are other rare enzyme deficiencies that can cause CAH.

Diagnosis

Tests for identifying CAH in at-risk fetuses include amniocentesis and chorionic villus sampling. Classic CAH is typically detected at birth through newborn screening or when ambiguous genitalia is present in female babies.

When To Seek Medical Attention?

Classic CAH is usually detected at birth through newborn screening or when female babies have ambiguous genitalia. Signs of severe illness due to low hormone levels may also indicate CAH in infants. Make an appointment with a doctor if you have concerns about your child's growth or development, or if you are pregnant and may be at risk of CAH.

Procedure

Treatment for congenital adrenal hyperplasia depends on its type and severity. While there is no cure, medications such as salt supplements and steroids are commonly prescribed to manage symptoms. Surgery may be recommended to correct genital abnormalities caused by classic CAH. Individuals with nonclassic CAH may not require treatment, but medications may be prescribed to alleviate symptoms.

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