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

Last Updated: Nov 01, 2019

What is Congenital Adrenal Hyperplasia?

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.

How is the treatment done?

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.

Who is eligible for the treatment?

Other than CAH, Corticosteroids are also used in the treatment of skin rashes, bronchitis, asthma, colitis (Crohn’s disease and ulcerative colitis) and arthritis (rheumatoid arthritis). It is also said to cure Addison’s disease and low blood pressure in some people. It is important to get medical attention as soon as you see certain signs of unusual growth and development in your child.

Who is not eligible for the treatment?

If you have bone conditions like osteoporosis then the intake of Corticosteroids can make your condition worse and lead to bone fractures, in such cases, this treatment should be avoided. If you have diabetes, it is important to consult a health professional before opting for Corticosteroids.

Are there any side effects?

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.

What are the post-treatment guidelines?

Corticosteroids should not be stopped suddenly during the treatment of CAH. If you see that the symptoms of this disorder are decreasing, it is not wise to suddenly stop the use of this medicine because it can lead to the inability to secrete cortisol naturally and you may face withdrawal symptoms. It can lead to adrenal crisis which may result to shock, vomiting and nausea. Therefore, it should be discontinued after the treatment of CAH, only under a doctor’s advice. Other treatment options also have to be continued along with this medicine to decrease the effects of CAH. Proper diet, exercise and a healthy lifestyle should be maintained.

How long does it take to recover?

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

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What is the price of the treatment in India?

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

Are the results of the treatment permanent?

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.

References

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Written ByDr. Rakesh Kumar Diploma in PaediatricPediatrics
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Reviewed ByDr. Bhupindera Jaswant SinghMD - Consultant PhysicianGeneral Physician
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