Definition and Overview

Congenital adrenal hyperplasia (CAH) refers to a cluster of hereditary conditions that affect the production of hormones in the adrenal glands, which are a pair of tiny glands that are found on each side of the body, above the kidneys. They are a part of the endocrine system, which means they play a huge role in the production of hormones.

The glands are composed of two major parts, which are called the adrenal medulla and adrenal cortex. The former is the outer layer of the glands and is responsible for the production of essential life hormones such as cortisol and sex hormones.

Although cortisol is often associated with high levels of cholesterol and an increased risk of metabolic conditions, it is still vital to life since it helps regulate blood pressure and is necessary during stress. Cortisol is the hormone that converts certain proteins into energy so a person has enough power when the body is in fight-or-flight mode. It only becomes dangerous when the body is chronically stressed and cortisol is released regularly.

Adrenal glands also create sex hormones (also known as gonadal hormones), which help create the sexual secondary characteristics of both male and female. These include the development of breasts in women and the change in voice for men. The amount of hormones secreted determines which of these secondary sexual features become more prominent. For example, if there is an excessive production of testosterone, a woman may develop hirsutism (hair overgrowth).

Those with CAH have a genetic defect that affects a certain enzyme that prevents the adrenal glands from producing the right amount of hormones such as cortisol. It is possible that the body makes a lot of it, but usually, hormones are insufficient.

This condition is quite rare since it affects less than 20,000 people. However, it can occur in both men and women. Although the condition can become serious, many have shown they can live with it properly.

Causes of Condition

Also known as adrenogenital syndrome, CAH is an autosomal recessive disease. This means that both parents are carriers of the mutation or defect of the CYP21A2 gene, which is then passed on to the children. Each of them contributes a copy of this gene mutation, but since they are only carriers, they do not have any symptom.

This gene is responsible for telling the body to create the necessary enzyme called 21-hydroxylase. The deficiency of the enzyme can be classified as classic or non-classic. Under the classic form, CAH can be described as simple virilizing or salt wasting. Of the two, the latter is more dangerous. In fact, it can be life-threatening. People who have it expel significant amounts of sodium, which is necessary to achieve electrolyte balance. Almost 80% of CAH cases are categorized as salt wasting.

The insufficiency in the production of hormones such as cortisol will force the adrenal glands to compensate by increasing the amount of sex hormones, which can then disrupt the hormonal balance for both men and women. This disruption will then present a host of new reproductive-related problems.

Key Symptoms

  • Early puberty for both males and females – Males would normally enter the puberty stage when they’re between 12 and 16 years old. Females, on the other hand, begin experiencing puberty between 10 and 14 years old.
  • Problems with the genitals – depending on the severity of the condition, it could be that the genitals are not defined, especially in men where the testes can appear smaller than normal, or they are normal in appearance, but they have other underlying problems like clitoris enlargement.
  • Hirsutism (excessive hair growth)
  • Amenorrhea (missed periods)
  • Lack of menstruation
  • Difficulty getting pregnant
  • Vomiting
  • Dehydration compounded by electrolyte imbalance
  • Early changes in voice quality for males


Severe CAH can cause an adrenal crisis, which is life threatening. Some of the symptoms are irritability, rapid heart rate, and coma.

Who to See and Treatments Available

Since the problem is related to hormone production, the best specialist to consult for this condition is an endocrinologist, a medical professional with an in-depth training, experience, and expertise in endocrinology or the study of the endocrine system, including hormones.

Because CAH can begin right after birth, newborn screening tests will also look into the condition. Usually, infants with CAH have one of the classical types. If the person is suspected of CAH later in life, such as in his teens, the endocrinologist may then request for certain exams such as a blood panel to assess adrenal-related hormones like aldosterone and cortisol.

As for treatment, the following may be recommended:

  • Synthetic cortisol – One of the immediate objectives of the treatment is to help the body create and maintain the necessary adrenal hormones like cortisol. For this reason, the endocrinologist may prescribe hydrocortisone, a synthetic cortisol and taken as a pill.

  • Surgery – This may be needed to correct any physical abnormality in the genitals.

  • Monitoring – This is recommended for adolescents whose overall physical attributes can change over time. For instance, the endocrinologist may request a progress report of bone growth since teens with CAH may experience early development of bones.
    Reference:

  • White PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 570.

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