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Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) refers to a range of autosomal recessive diseases resulting from deficiency of cortisol secretion and an increase in the level of male sex hormones (androgens) in both sexes. This is an inherited disorder causes the swelling of the adrenal glands which are located at the top of the kidney.

Normally, the adrenal glands are responsible for producing three different hormones:

  1. Corticosteroids – measures body’s response to illness or injury; 2. Mineralocorticoids – regulates salt and water levels; and 3. Androgens, which are male sex hormones.

In the adrenal gland, cholesterol is turned pregnenolone and then several enzymes complete the production of aldosterone, cortisol, and androgens. If one or more of these enzymes is deficient or dysfunctional, this causes low levels of cortisol, this affects adrenal glands by elevating adrenal gland growth (CAH) and hormone production. However, the increased size and activity cannot overcome the block in cortisol production. Other substances such as 17-hydroxyprogesterone that do not need the defective enzyme will be produced in excess. Majority of CAH cases are due to the deficiency or absence of enzyme 21-hydroxylase.

Although CAH is not curable, as long as patients receive adequate care and treatment, they can go on to lead normal lives.

Signs & Symptoms

Classic congenital adrenal hyperplasia:

The most noticeable sign of classic congenital adrenal hyperplasia in girls is often abnormal-appearing sex organs that look more male than female, which may include an enlarged clitoris — a condition called ambiguous external genitalia, but normal reproductive organs (uterus, fallopian tubes, and ovaries).

Signs and symptoms of classic congenital adrenal hyperplasia in infants include:

  • Ambiguous genitalia in girls
  • Enlarged penis in boys
  • Poor weight gain
  • Weight loss
  • Dehydration
  • Vomiting

Signs and symptoms of classic congenital adrenal hyperplasia in children and early adolescence include:

  • Early puberty
  • Rapid growth during childhood, but short as adults
  • Irregular menstrual cycles in women
  • Infertility in women and men
  • Excess muscle growth
  • Early development of pubic and armpit hair
  • Acne
  • Deep voice

Non-classic congenital adrenal hyperplasia

This form of CAH  is milder and usually becomes evident in late childhood or early adolescence.

Signs and symptoms are typically most apparent in adolescent girls and women and often include:

  • Irregular or absent menstrual periods
  • Hirsutism
  • Infertility / Decreased fertility

In both females and males, signs and symptoms of non-classic congenital adrenal hyperplasia also may include:

  • Early puberty
  • Rapid growth during childhood, but  short as adults
  • Severe acne
  • Low bone density
  • Obesity


Physical examination by Clinician Doctor will examine the baby and evaluate symptoms. Based on above symptoms doctor may suspect congenital adrenal hyperplasia, the next step is to confirm the diagnosis with blood and urine tests.

Testing may include

  • New-born screeningfor 21-hydroxylase deficiency that helps to detect 17-hydroxyprogesterone (17-OHP).
  • Prenatal testing withchorionic villus sampling or amniocentesis

Non-Laboratory Tests

  • Blood pressure
  • Pelvic ultrasonography to evaluate internal reproductive organs in females
  • Assessing skeletal growth by X ray / Bone age study.

Congenital adrenal hyperplasia (CAH) testing helps to

  • Screen all new-borns for 21-hydroxylase deficiency
  • Confirm the CAH in  positive new-born screens & new born with symptoms
  • Identify the  carrier status of a person who has a family history with CAH / 21-hydroxylase deficiency
  • Determine the chromosomal sex (XX or XY) of a new-born with ambiguous genitalia


CAH can be effectively treated and this can’t be cured. Treatment is completely depends on the type and severity of CAH.

Treatment of classical CAH starts soon after birth and is needed throughout the patient’s life.

Classic CAH treatment

The primary goal of treating classical CAH is to reduce or control the excess androgen production and replace the deficient hormones. Hormone levels need to be adjusted and monitored throughout the patient’s life. Proper treatment with the correct dosage of these hormones is crucial to prevent adrenal crisis and virilization. Doctor may recommend glucocorticoids (to replace cortisol), mineralocorticoids (to replace aldosterone) and salt supplements may be prescribed, particularly in infancy. During times of high stress or illness adrenal glands are normally much more active. Therefore, CAH patients must be closely monitored when they are ill or after major surgery or stressful event, because their bodies will require more hormones to help the body recover and meet increased demands. The dose of glucocorticoids should be minimized to avoid development of Cushing’s syndrome, a disorder characterized by a variety of symptoms and physical abnormalities including weight gain; skin, muscle and bone changes. High dose mineralocorticoid supplements or salt should be avoided to prevent high blood pressure.

Female classical CAH patients also have the option of surgery to correct the appearance of ambiguous genitalia. Usually surgery is thought to be easier when performed within 2-6 months after birth. This decision is absolutely parents’ choice to proceed or to wait.

Non Classic CAH treatment

Non-classical CAH is comparatively mild and not very serious. If a patient with non-classical CAH begins to enter puberty too early, has early maturation of bones, or is a female with excess facial or body hair or other masculine features, glucocorticoid treatment is recommended. Fertility problems can also be corrected with glucocorticoids and/or fertility drugs. Women who do not wish to conceive may also be prescribed oral contraceptives. Unlike severe forms of CAH, non-classical CAH patients are free to taper and stop treatment when symptoms go away.

Why Apollo Diagnostics?

We have the expertise of 34 + years in healthcare. Our labs are equipped with EQUAS (External Quality Assurance System) and loaded with full-automated machines to ensure error free reports, with a quick turnaround time, and at an affordable price. For your convenience, we offer free home collection of samples.

For appointments, please call 4444 2424.

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