Congenital adrenal hyperplasia : causes, symptoms, diagnosis, treatment

Last Updated on December 6, 2022 by Dr. Saqib Mueed

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which the adrenal glands do not produce enough of the adrenal hormone. These hormones are very important in the body because it helps to regulate the body’s blood sugar, blood pressure, and overall energy levels.

If left untreated, CAH can lead to a number of health problems, including a lack of energy, low blood pressure, and slow growth in children. In some cases, CAH can even lead to serious health complications, such as diabetes and cardiovascular disease.

There is no one cure for CAH, but treatment typically includes a combination of hormone replacement therapy and lifestyle changes. 

Hormones that are responsible for congenital adrenal hyperplasia

Aldosterone- adrenal glands secrete these hormones which are important in maintaining water and salt to make our body balanced.

Androgen- this is a hormone that is responsible for the sex characteristics of the male, especially in testosterone.

Cortisol- it is important to maintain the body fluids and sugar level in blood and it is secreted by the adrenal cortex it is a steroid hormone

Symptoms

In the case of inadequate mineralocorticoids

• Dehydration
• Vomiting
• Shock
• Irregular hairs on the body

Types of CAH

There are two types of congenital adrenal hyperplasia

1. Classic congenital adrenal hyperplasia
2. Non-classic congenital adrenal hyperplasia

Now we discussed them one by one;

Classic CAH

It is a common kind of CAH that is detected in infancy.

Symptoms

Classical CAH in infant girls having large clitoris and infant boys having enlarged penis.

In babies these symptoms include;

• Poorly gaining weight
• Vomit
• Weight losing
• Dehydration

Children who have classic CAH go through early puberty and grow faster than other children. Women who have this type of disorder have irregular periods.

Non-classic CAH

It is a common form and does not become evident until childhood. This form is mild than the classic form.

Symptoms

There are no symptoms of non-classic CAH at birth it will occur in late childhood.

 The symptoms of women and girls who have this type of disease include

• Voice will be deep
• Periods are irregular
• More acne
• Infertility
• Obesity

Causes

There are the following causes of congenital adrenal hyperplasia

• Congenital adrenal hyperplasia is caused by a deficiency of enzymes
• It is caused due to low levels of adrenal hormones resulting in vomiting, diarrhea, and shock.
• CAH is an inherited state which is caused due to mutation in genes that are like coding for enzymes that are involved in steroid hormones making in adrenal glands.
• The main causes of CAH are an abnormality in the growth of both male and female sexes.

Diagnosis

There are the following tests included in congenital adrenal hyperplasia

Prenatal testing: these testing can be done by;

• Chorionic villus sampling
• Amniocentesis

In other newborn babies, infants, and children CAH diagnose included;

• Physical exam
• Urine test
• Blood test
• Gene testing
• Child’s sex determination test

Preventions

There is no prevention in congenital adrenal hyperplasia but if you have a child with CAH then please contact your doctors and console your family. If you see some symptoms in your child like these then immediately take preventive measures and go to the specialists. If you will take preventive measures then it is very easy for you to treat your child.

Treatment

Congenital adrenal hyperplasia is not a cure but has its treatment. Its treatment starts from the fetus to the womb. Some who have mild forms of CAH need no treatment and no need to take medicines daily but only they need to have cortisol if they are sick. The most common treatment is hormone replacements. It brings your affected hormone to normal and lessens your symptoms.

If there is non-classic CAH in children then they do not need any treatment they should give steroids tablets. This is also done due to steroid hormone therapy.

The main goal of treatments is to maintain the development and growth during childhood and also give a healthy life to the adults and also maintain fertility. ^[1]Congenital Adrenal Hyperplasia in the Newborn (state.mn.us) ^[2]Congenital adrenal hyperplasia – The Lancet ^[3]159146111.pdf (core.ac.uk) ^[4]https://academic.oup.com/DocumentLibrary/ENDO/JCEM/jc.2018-01865.pdf

Reviewed by:

Dr. Shahid Bukhari

MBBS, FCPS (Medicine)

Ex. Registrar DOW Medical College Karachi

Medical Officer Aga Khan University Hospital Karachi

Our reviewers’ details, Click Here