What is Congenital Adrenal Hyperplasia (CAH)? What are the Causes, Symptoms and Treatment?

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands. The adrenal glands produce the hormones cortisol and aldosterone. CAH is caused by genetic defects that prevent these glands from producing these two hormones completely or at normal rates. You can find more information below.

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) ; It refers to a serious genetic disorder that affects the adrenal glands, which are a pair of walnut-sized organs above the kidneys, leading to sexual development disorders . The adrenal glands produce important hormones, including:

  • cortisol, which regulates the body’s response to illness or stress
  • Mineralocorticoids such as aldosterone, which regulate sodium and potassium levels
  • Androgens, such as testosterone, the male sex hormones

In people with CAD, the occurrence of a genetic problem results in a deficiency of one of the enzymes necessary to make these hormones.

Although there is no cure to completely eradicate the disease, with various methods developed, most people with congenital adrenal hyperplasia can lead a normal life.

There are two main types of congenital adrenal hyperplasia:

  • Classical CAH: This form is rarer and is usually detected in infancy. About two-thirds of people with the classical form have the salt-losing form , while one-third have what is called the simple virilizing form (the appearance of male sex characteristics in women).
  • Non-classical CAH: This form is milder, more common, and may not be apparent until childhood or early adulthood.

Why does congenital adrenal hyperplasia occur?

The most common cause of CAD is a deficiency of the enzyme known as 21-hydroxylase. CAD is sometimes called 21-hydroxylase deficiency . There are also rarer enzyme deficiencies that cause CAD. Children with the disease have parents who either have CAD or are both carriers of the genetic mutation that causes the condition. This is known as autosomal recessive inheritance pattern . (In autosomal recessive inheritances, if both mutated genes are transmitted, the individual is considered to be a patient, if a single mutation gene is transmitted, the individual is considered to be a carrier.)

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Who is at risk?

Factors that increase the risk of congenital adrenal hyperplasia include:

  • Parents who both have CAD or are both carriers of this genetic defect for the disorder
  • Being of Spanish, Italian, Balkan descent, as well as some ethnic heritage such as Ashkenazi Jew

What are the symptoms of congenital adrenal hyperplasia?

Symptoms of CAH vary depending on which gene is defective and the level of enzyme deficiency.

Classic CAD symptoms

Girls with classic CAD may have a condition known as the ambiguous genitalia , where the clitoris is enlarged or the genitals resemble those of a boy . Male infants with classic CAH have normal-appearing genitalia. Both boys and girls can be severely affected by a deficiency in cortisol, aldosterone, or both. This is known as an adrenal crisis and can be life-threatening.

The classic cause of CAH; Insufficient production of the hormone cortisol. These children; they may have problems maintaining normal blood pressure, normal blood sugar and energy levels and are more vulnerable to stress. An excess of male sex hormones can cause short stature and precocious puberty for both boys and girls.

Classic signs of CAD in children and adults include:

  • Hair growth in the genital area at a very early age
  • Rapid growth in childhood but shorter-than-average stature later on

Non-classical signs of CAD

Usually, when a baby is born, signs of non-classical congenital adrenal hyperplasia do not appear immediately. The condition cannot be identified on routine infancy blood screening and usually becomes apparent in late childhood or early adulthood. Cortisol may be the only hormone missing.

Teenage and adult girls with non-classical CAD may have normal-appearing genitalia at birth, but may experience problems later in life such as:

  • Irregular menstrual periods or absence of menstruation
  • Masculine features such as facial hair, excess body hair, and a deepening voice
  • severe acne

In both women and men, symptoms of non-classical CAD may include:

  • Early appearance of pubic hair
  • Low bone density (Osteopenia)
  • Obesity
  • high cholesterol

When should you see a doctor?

Classical CAH is usually detected at birth through necessary screenings or when female babies have ambiguous genitalia. CAD can also be defined if a boy or girl infant shows signs of severe illness due to low cortisol, aldosterone, or both.

Children with non-classical congenital adrenal hyperplasia may present with signs and symptoms of precocious puberty. If you are concerned about your child’s growth or development, you should talk to your child’s doctor.

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If you are pregnant and at risk of CAD because of your own medical history or ethnicity, you can ask your doctor about genetic counseling.

How is congenital adrenal hyperplasia diagnosed?

HR; It can be diagnosed before the baby is born, in childhood or later.

prenatal test

Tests used to diagnose congenital adrenal hyperplasia before the baby is born include:

  • Amniocentesis: This procedure involves using a needle to take a sample of amniotic fluid (the biological fluid that protects and nourishes the baby) from the uterus, and then examines the cells.
  • Chorionic villus sampling (Placental biopsy): This test involves pulling cells from the placenta with a needle to be examined.
  • Maternal blood test: It can determine the sex of the fetus and whether the fetus has CAD by examining the blood sample taken from the mother. This test, which has no risk, can give clear and understandable results.

Diagnosis in infants, children and teenagers

Doctors recommend that all newborns be screened for genetic 21-hydroxylase deficiency in the first few days of life. This test can identify the classical form of CAH, but not the non-classical form.

Diagnosis in infants, children, and young adults includes:

  • Physical examination: If the doctor suspects CAD based on the physical examination and symptoms, the next step is to confirm the diagnosis with blood and urine tests.
  • Blood and urine tests: These tests detect abnormal levels of hormones produced by the adrenal glands.
  • Gene testing: In older children and young adults, genetic testing may be required to diagnose CAD.
  • Testing to determine a child’s sex: In infants with highly ambiguous genitalia, tests can be done by analyzing the chromosomes to identify sex. A pelvic ultrasound may also be tested to identify the presence of female reproductive structures such as the uterus and ovaries.

How is congenital adrenal hyperplasia treated?

Treatment of congenital adrenal hyperplasia is sometimes performed with medications, and sometimes surgery may be required.

Your doctor will likely refer your child to a doctor who specializes in childhood hormonal issues (pediatric endocrinologist) for the treatment of CAD. healthcare team; It may also include other specialists such as urologists, psychologists, and geneticists.


The goal of treating congenital adrenal hyperplasia with medications is to reduce excess androgen production and replace the missing hormones. People with the classic form of CAH can successfully manage the condition by taking hormone replacement drugs (complementary drugs for the missing hormone) throughout their lives. People with non-classical CAD may not need treatment or may only need small doses of corticosteroids (medications similar to hormones released from the adrenal glands).

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Medicines for CAH are taken daily. Additional medications or higher doses may be required during periods of significant stress, such as illness or surgery.

Medications may include:

  • Corticosteroids to replace cortisol
  • Mineralocorticoids to replace aldosterone to help retain salt and get rid of excess potassium
  • Salt supplements to help with salt retention

Remember, your doctor will decide which medicine to take and how.

The procedure for monitoring the effectiveness of drugs includes:

  • Physical examinations: Doctor; He or she will check your child’s growth and development, including monitoring changes in height, weight, blood pressure, and bone growth.
  • Monitoring for side effects: Doctor; will monitor your child for side effects such as loss of bone mass and growth disorder, especially if steroid-type replacement drug doses are high and used for a long time.
  • Blood tests to check hormone levels: It is important to have regular blood tests to ensure hormone levels are balanced. A child who has not yet reached puberty needs enough cortisone to suppress androgens so that it can follow a normal course of growth. For women with CAH, it is important to suppress androgens to minimize unwanted masculine traits. On the other hand, too much cortisone can cause Cushing’s syndrome .

reconstructive surgery

In some baby girls with severe ambiguous genitalia due to classic congenital adrenal hyperplasia, doctors may recommend reconstructive surgery to improve genital function and make them look more feminine. Reconstructive surgery is the process of correcting congenital or subsequent deformities in the body.

Surgery may involve reducing the size of the clitoris and reconstructing the vaginal opening. Women who have had reconstructive genital surgery may need more plastic surgery later in life.

Genital surgery is easier to do when the child is very young. However, some parents may choose to wait for surgery until their child is old enough to understand the risks and choose their own gender.

You should talk to your doctor about these issues before deciding on the best treatment approach for your child. Working with your doctor, you can make informed choices that will help your child develop.

Psychological support is also important for the emotional health and social adjustment of boys and girls with genital abnormalities.

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