Congenital adrenal hyperplasia: symptoms, causes and treatments

Congenital adrenal hyperplasia is an incurable disease that presents with varying degrees of severity. Some people will need to undergo lifelong treatment.

Last update: June 05, 2021

Congenital adrenal hyperplasia comprises a group of genetic disorders of the adrenal glands. These are two organs located at the top of the kidneys that are cone-shaped and the size of a walnut.

The adrenal glands produce hormones like cortisol, aldosterone, androgens, etc. These affect the functioning of the metabolism, the immune system, the response to stress, blood pressure and others.

In congenital adrenal hyperplasia there is a genetic mutation that leads to the adrenal glands making too little cortisol or aldosterone. This causes imbalances that lead to various health problems.

What symptoms are present?

Congenital adrenal hyperplasia is a condition that involves a genetic mutation.

Congenital adrenal hyperplasia, or CAH for its acronym in English, It can be of two types: classical or non-classical. The latter is also known as late-onset CAH. The symptoms are different depending on the type of which it is. Let's see.

Classic CAH

Classic congenital adrenal hyperplasia accounts for 95% of all cases of this pathology. It occurs mainly in babies and young children. It is characterized by low or no production of the hormones cortisol and aldosterone.

There are two forms of classic CAH: with salt loss and virilizing or without salt loss.. The first is the most serious form and leads to the body not being able to retain enough sodium (salt), which is lost through urine. If not treated in time, it can lead to death. The main symptoms are the following:

  • Dehydration.
  • Vomiting
  • Diarrhea.
  • Bad nutrition.
  • Low blood pressure.
  • Heart rhythm problems.
  • Low levels of glucose and sodium in the blood.
  • Metabolic acidosis or too much acid in the blood.
  • Weightloss.
  • Adrenal crisis or shock. There is irritability, confusion, a fast heartbeat, and coma.

When there are high levels of androgens and low levels of cortisol, the following symptoms may appear:

  • Ambiguous external genitalia in girls new born, that is, with an atypical appearance. The internal reproductive organs are normal.
  • Enlarged genitalia in males newly born.
  • Virilization in boys or girls before puberty. This includes armpit and pubic hair, severe acne; greater height in childhood and less height in adulthood; early beard or excess facial hair in girls, etc.

Read also: Hirsutism: what it is, causes and natural remedies to treat it

In virilizing or non-salt-wasting CAH, aldosterone deficiency is less severe. No risk of adrenal crisis. Newborn girls present ambiguous genitalia and boys, signs of early virilization.

Non-classical CAH

Symptoms of nonclassic or late-onset congenital adrenal hyperplasia are almost always related to high androgen levels. This modality can appear in childhood, adolescence, or early adulthood.

The main symptoms are the following:

  • Rapid increase in height in childhood or adolescence, but final height lower than that of the parents.
  • Early signs of puberty.
  • Irregular menstruation in girls.
  • Fertility problems in 10 to 15% of women.
  • Excessive hair on the face or body in women.
  • Male pattern baldness in men.
  • Acne.
  • Enlarged penis or small testicles in men.

Some people have nonclassic congenital adrenal hyperplasia, but their symptoms are so mild that they never even realize they have this problem.

What are the causes of congenital adrenal hyperplasia?

In both types of congenital adrenal hyperplasia there is a dysfunction in the adrenal glands. This is due to the deficiency of an enzyme called 21-hydroxylase. Such an enzyme is essential for the production of cortisol and aldosterone.

This is the result of a genetic defect. As a consequence of 21-hydroxylase deficiency, the brain is forced to secrete a large amount of a hormone called adrenocorticropic or ACTH. This stimulates the adrenal glands and causes them to grow. This is called adrenal hyperplasia.

ACTH also stimulates the production of androgens, male hormones. This leads to various abnormalities, such as those described in the symptoms. In classic congenital adrenal hyperplasia there is absolute deficiency of 21-hydroxylase, while in non-classic this deficiency is not total.

In about 5% of cases there are defects in other enzymes such as 11-hydroxylase or 17-hydroxylase. This determines that the disease is more or less serious.

Diagnostic tests

Laboratory studies of the amniotic fluid and the placenta allow the diagnosis of congenital adrenal hyperplasia.

Prenatal tests can be done to make the diagnosis of congenital adrenal hyperplasia.. These include amniocentesis and chorionic villus analysis. They are laboratory studies of the amniotic fluid and the placenta, respectively.

During the first days of the child's life, it is recommended to do tests to detect possible 21-hydroxylase deficiency. In children, adolescents, and young adults, one or more of the following tests are done:

  • Physical exploration. The physical examination provides data that allow suspecting the presence of congenital adrenal hyperplasia.
  • Blood and urine tests. They make it possible to detect abnormal levels in the hormones produced by the adrenal glands.
  • Genetic testing. They allow to confirm the diagnosis of congenital adrenal hyperplasia.

In cases where there is a girl with ambiguous external genitalia chromosome analysis can be done to determine genetic sex. An ultrasound can establish whether the female reproductive structure is present.

Find out: What is cholestasis of pregnancy and what are its symptoms?

Available treatments

The most common is that congenital adrenal hyperplasia is treated with the use of drugs. A hormone replacement drug is prescribed to be taken every day. This makes it possible to normalize the hormonal level and reduce symptoms.

There is no cure for congenital adrenal hyperplasia. Those who suffer from it must be in treatment for their entire life. In cases where symptoms are mild, no treatment may be required.

If a girl has ambiguous external genitalia, she can have a surgery called genitoplasty. during the first 2 to 6 months of life. This allows you to change the look and function of your genitals. However, in adult life you may have pain during intercourse or loss of sensation in the clitoris.

If the surgery is not done early in life, it is possible that after several years it can be done successfully. A person with congenital adrenal hyperplasia will need psychological support to cope with their condition.

Prenatal control

During the prenatal checkup congenital adrenal hyperplasia can be detected with a first trimester exam. Also, during the second trimester it is already possible to measure hormone levels and determine if the baby has CAH.

When congenital adrenal hyperplasia is detected before birth, treatment can be carried out while the fetus is still in the womb. This consists of the mother ingesting a synthetic corticosteroid. The substance can cross the placenta and reach the baby.

This treatment is considered experimental and there is not enough data about the security of your application yet. Possible long-term effects are unknown, and it is also unclear whether it affects fetal brain development. The application of this method is controversial.

Living with congenital adrenal hyperplasia

Most people with congenital adrenal hyperplasia are in good health, but they must take their medications for their entire lives. However, fertility problems are common in severe cases.

It is recommended that children with CAH wear a medical identification necklace or bracelet. Support groups or psychological counselors are very helpful for those who must deal with this disease for their whole life.