Congenital Adrenal Hyperplasia: Treatment, Procedure, Cost and Side Effects

Congenital Adrenal Hyperplasia or CAH is characterized as a group of inherited genetic disorder which affects the adrenal glands (a pair or organs just above your kidneys that resemble a walnut). A person who has this condition lacks the enzymes which the adrenal glands use for producing hormones that play a key role to regulate blood pressure, immune system functioning, metabolism and other important functions. Congenital Adrenal Hyperplasia also affects the production of steroid hormones like cortisol, mineralocorticoids and androgens. People who have Congenital Adrenal Hyperplasia overproduce androgen and lack cortisol. Some forms of this disorder can cause many problems with the development of children and even cause life threatening complications. Congenital Adrenal Hyperplasia can be divided into two categories, the more severe form detected in infancy stage is known as classic CAH and the milder form is called non-classic CAH.

Symptoms of classic CAH in infants include, enlarged clitoris in females, illness due to lack of aldosterone or cortisol, early appearance of hair in the pubic region and rapid growth in children. Signs of non-classic CAH include, severe acne outbreak, masculine features in females, absent or irregular menstrual cycle, early growth or pubic hair and rapid body growth. Congenital Adrenal Hyperplasia is usually hereditary and is passed in an inheritance pattern which is called autosomal recessive. Children who acquire this disorder can get it from their parents who have CAH or are both carriers of this mutation. Certain ethnic groups like Inuits, Yupik, Yugoslavians, Italians, Hispanics and Ashkenazi Jews are more likely to develop this condition. Corticosteroids treatment is considered the most effective and is the main treatment to relieve symptoms of Congenital Adrenal Hyperplasia.

Congenital Adrenal Hyperplasia cannot be cured completely, but treatment helps to suppress the symptoms and lessen it to a certain extent. For doctors to point out the correct treatment, diagnosis of this disease has to be performed. If a sibling has this condition, it is likely that even the unborn fetus of his/her mother might have this condition. This can be easily diagnosed by amniocentesis, where a needle is used to withdraw some sample of the amniotic fluid from the womb and test it. A test which includes removing some cells from the placenta for examination is also performed to know if the fetus is affected with this condition or not. Diagnosis for Congenital Adrenal Hyperplasia in children and adults are performed by conducting a physical exam, blood or urine tests, gene testing and determining the sex of the child.

Treatment usually depends on the type of Congenital Adrenal Hyperplasia and how severe the condition is. However, Corticosteroids are considered the best for controlling the symptoms of this disorder. If your child has this condition then your doctor can recommend a pediatric endocrinologist and if this disorder is diagnosed in adulthood then other specialists such as genetics, psychologists and urologists can also treat CAH. Corticosteroids can be either given orally or can be injected so that it is distributed throughout the body. People who have CAH, have very less Corticosteroids which the body produces naturally. Hence, they need to replenish their body with cortisol. Synthetic Corticosteroids can easily mimic the actions of natural Corticosteroids which the body produces and can be used to replace this supplement in patients with adrenal glands that fail to produce Corticosteroids.

Consuming Corticosteroids can have certain side effects such as edema (swelling of the legs), weight gain, high blood pressure, loss of potassium, headache, muscle weakness, puffiness of the face, facial hair growth, easy bruising in the skin and thinning of the skin. Other side effects include slow healing of a wound, glaucoma, cataracts, ulcers, menstrual irregularity and rounding of the upper back. Sometimes it may also result to psychological disturbances such as mood swings, insomnia, euphoria and depression.

Corticosteroids treatment doesn’t treat CAH from the roots, but it does decrease the symptoms of this disorder to a certain extent.

The price of the treatment in India is approximately Rs.200 to Rs.13,000.

Corticosteroids have to be consumed on a regular basis or as advised by the doctor for the symptoms to be suppressed for a longer amount of time.