Congenital adrenal hyperplasia | Adrenal disorder

Congenital adrenal hyperplasia is an autosomal recessive disease and in this disorder, both adrenal glands do not properly work; as it affects both these glands which are present on the top of the kidney and it is cone-shaped organs. Congenital adrenal hyperplasia is also called CAH.

It is the most common disease in newborn babies and infants. It is an inherited disease that gives the result of the high level of sex hormones and low level of cortical in male and female characteristics and it is developed during the early stage of puberty in both male and female cases.  CAH is not a life treating disorder. The adrenal glands normally produce an amount of androgen and cortisol.

Aldosterone is also made. Overproduction of androgen is also a result of congenital adrenal hyperplasia. Congenital adrenal hyperplasia also is known as 21- Hydroxylase deficiency and adrenogenital syndrome.

Hormones which are responsible for congenital adrenal hyperplasia

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

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

3        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

Enzymes involved in congenital adrenal hyperplasia

1        21-hydroxylase deficiency; it is most common and CAH is due to 21-hydroxylase deficiency because the level of androgen decreased and the level of testosterone increased.

2        17-alpha hydroxylase; in this case, the level of androgen is increased and the level of testosterone decreased. It is involved in CAH.

3        11-beta hydroxylase; in this case, both levels of testosterone and androgen increased.

Symptoms of CAH included

In the case of inadequate mineralocorticoids

1        dehydration

2        vomiting

3        shock

4        irregular hairs on the body

In the case of excess androgen

1        average size of the penis but having no sperms

2        quickly growth in children

3        not easy to identify external genitalia

4        shallow vagina

In the case of enough androgen

1        infertility

2        abnormality in puberty

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.


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

In babies these symptoms include;

1        poorly gaining weight

2        vomit

3        weight losing

4        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 classic form.


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

 The symptoms of women and girls which have this type of disease included;

1        voice will be deep

2        periods are irregular

3        more acne

4        infertility

5        obesity

 When to see doctors during classic and nonclassic CAH;

1        Classic congenital adrenal hyperplasia identified when babies of males and females have shown these symptoms. If symptoms are identified in children then see your doctors.

2        In nonclassic congenital adrenal hyperplasia your concern about the growth and development of the children and to see your doctors.

3        In most cases; CAH can be identified at birth but in other, some milder cases; until later symptoms may not be developed. Then see your doctors.

Causes of congenital adrenal hyperplasia

There are following causes of congenital adrenal hyperplasia,

1  Congenital adrenal hyperplasia caused by a deficiency of enzymes.

2  It is caused due to low levels of cortisol resulting in vomiting, diarrhea, and shock.

3  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.

4        The main causes of CAH are an abnormality in the growth of both male and female sexes.


There are 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;

1          physical exam

2        urine test

3        blood test

4        gene testing

5        child’s sex determination test


There is no prevention in congenital adrenal hyperplasia but if you have a child with CAH then please console your doctors and with 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.


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 CAH is not treated well then it can result in death within one to six weeks after birth. 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 steroids 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. The tablets of steroids should be given three times daily to the children.


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