Congenital Adrenal Hyperplasia: Symptoms, Causes, and Treatments

Congenital adrenal hyperplasia is an incurable disease that appears with varying degrees of severity. Some people will need to undergo lifelong treatment.
Congenital Adrenal Hyperplasia: Symptoms, Causes, and Treatments

Last update: 28 July, 2021

Congenital adrenal hyperplasia comprises a group of genetic disorders of the adrenal glands. The adrenal glands are two organs present on top of the kidneys that are cone-shaped and about the size of a walnut.

These glands produce hormones such as cortisol, aldosterone, androgens, etc. In turn, these hormones affect the functioning of metabolism, the immune system, stress response, blood pressure, and other processes.

In this condition, there’s a genetic mutation that leads to the adrenal glands producing too little cortisol or aldosterone. As a result, this causes imbalances that lead to various health problems.

What are the symptoms?

A man assisting an elderly woman who's not feeling well.
Congenital adrenal hyperplasia is a condition involving a genetic mutation.

Congenital adrenal hyperplasia, or CAH for short, consists of two types: Classical or non-classical, or late-onset CAH. Also, depending on the type, the symptoms are different. So, let’s take a closer look.

Classic CAH

Classic CAH accounts for 95% of all cases of this pathology. This condition occurs mainly in infants and young children. Also, it’s characterized by low or no production of the hormones cortisol and aldosterone.

There are two forms of classic CAH: With salt loss and virilization or without salt loss. The former is the more severe form and leads to the body not being able to retain enough sodium (salt), which the body loses through the urine. If treatment doesn’t take place in time, it can lead to death.

As for the main symptoms, they are as follows:

  • Dehydration
  • Vomiting
  • Diarrhea
  • Poor feeding
  • Low blood pressure
  • Heart rhythm problem
  • Low blood glucose and sodium levels
  • Metabolic acidosis or too much acid in the blood
  • Weight loss
  • And finally, adrenal crisis or shock. Irritability, confusion, rapid heart rate, and coma

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

  • Ambiguous external genitalia in newborn girls, i.e., atypical in appearance. The internal reproductive organs are normal.
  • Enlarged genitalia in newborn boys.
  • Virilization in boys or girls before puberty. This includes the appearance of pubic and armpit hair, severe acne; increased height in childhood, and decreased height in adulthood; premature beard or excessive facial hair in girls, etc.

In the case of virilizing CAH or without salt loss, aldosterone deficiency is less severe. What’s more, there’s no risk of adrenal crisis. However, newborn girls have ambiguous genitalia and boys have signs of early virilization.

Non-classical CAH

Symptoms of non-classical or late-onset congenital adrenal hyperplasia almost always have to do with high androgen levels. This modality may appear in childhood, adolescence, or early adulthood.

The main symptoms are as follows:

  • A rapid increase in height in childhood or adolescence, but a 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 facial or body hair in females
  • Male pattern baldness in men
  • Acne
  • And finally, enlarged penis or small testicles in men

Some people have non-classical CAH, but their symptoms are so mild that they never even realize they have this problem.

What causes congenital adrenal hyperplasia?

In both types of CAH, there’s a dysfunction of the adrenal glands. This is due to a deficiency of an enzyme called 21-hydroxylase, which is essential to the production of cortisol and aldosterone.

This is the result of a genetic defect. In other words, 21-hydroxylase deficiency forces the brain to secrete a large amount of adrenocorticotropic hormone or ACTH. This stimulates the adrenal glands and causes them to grow. We refer to this phenomenon as adrenal hyperplasia.

ACTH also stimulates the production of androgens, the male hormones. This leads to various abnormalities, such as those we described as symptoms. In classical congenital adrenal hyperplasia, there’s an absolute deficiency of 21-hydroxylase, whereas, in non-classical congenital adrenal hyperplasia, this deficiency isn’t total.

In about 5% of cases, there are defects in other enzymes such as 11-hydroxylase or 17-hydroxylase. This determines the severity of the disease.

Diagnostic tests

A woman extracting blood from a man's arm.
Laboratory studies of the amniotic fluid and placenta allow the diagnosis of congenital adrenal hyperplasia.

Doctors can perform prenatal tests to formulate the diagnosis of congenital adrenal hyperplasia. These include amniocentesis and chorionic villus sampling. These are laboratory studies of the amniotic fluid and placenta, respectively.

During the first days of the child’s life, it’s advisable to test for possible 21-hydroxylase deficiency. In children, adolescents, and young adults, doctors will perform one or more of the following tests:

  • Physical examination. The physical examination provides data that allows doctors to suspect the presence of congenital adrenal hyperplasia.
  • Blood and urine tests. These make it possible to detect abnormal levels of hormones due to adrenal gland production.
  • Genetic testing. These confirm the diagnosis of congenital adrenal hyperplasia.

In cases where there’s a girl with ambiguous external genitalia, it’s possible to do a chromosome analysis to determine the genetic sex. An ultrasound can establish whether the female reproductive structure is present.

Available treatments for congenital adrenal hyperplasia

Most commonly, congenital adrenal hyperplasia treatment requires the use of drugs. Doctors will prescribe a hormone replacement medication, which the patient must take every day. This allows the hormone level to normalize and reduces symptoms.

Unfortunately, there’s no cure for congenital adrenal hyperplasia. The sufferer will require life-long treatment. In cases where symptoms are mild, no treatment may be necessary.

If a girl has ambiguous external genitalia, she may undergo a surgery called genitoplasty during the first 2 to 6 months of life. This allows the appearance and function of her genitals to change. However, in adulthood, she may experience pain during intercourse or loss of feeling in the clitoris.

At the same time, if surgery doesn’t take place early in life, doctors may be able to perform it successfully after several years. It’s important to keep in mind that a person with congenital adrenal hyperplasia will need psychological support to cope with the condition.

Prenatal care for congenital adrenal hyperplasia

Fortunately, prenatal screening can allow for the detection of congenital adrenal hyperplasia with a first-trimester screening. During the second trimester, it’s possible to measure hormone levels and determine if the baby has CAH.

When congenital adrenal hyperplasia detection takes place before birth, specialists can treat the fetus while it’s still in the womb. This consists of the mother ingesting a synthetic corticosteroid. The substance then crosses the placenta and reaches the baby.

However, this treatment is experimental, and there are not yet sufficient data on the safety of its application. The possible long-term effects are unknown and it’s also unclear whether it affects the brain development of the fetus. Therefore, the application of this method is controversial.

Living with congenital adrenal hyperplasia

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

Finally, children with CAH should wear a medical identification bracelet or necklace. Also, support groups or psychological counselors are of great help for those who must deal with this disease for their entire life.

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