Congenital Adrenal Hyperplasia


Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal glands which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both.


About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.

Review of Related Anatomy and Physiology

The adrenal glands are two bean-shaped glands curved over the top of the kidneys. It has a glandular (cortex) and neural tissue (medulla) parts. The central medulla region is enclosed by the adrenal cortex, which contains three separate layers.

The adrenal cortex is responsible for producing three major groups of steroid hormones known as the corticosteroids. The hormones are the following:

  1. Mineralocorticoids (aldosterone) – important in regulating the mineral or salt content in the blood, particularly the sodium and the potassium ions. The target organ of this hormone is the kidney tubules which is the one responsible for reabsorbing the minerals selectively or allowing them to be excreted out from the body. Increase aldosterone results to increase sodium retention by the kidney tubules and excretion of the potassium. When sodium increases the water also increases or follows. Thus, mineralocorticoids help in the regulation of water and electrolyte levels (equilibrium) in the body.
  2. Glucocorticoids (cortisone and cortisol) – promotes the normal cell metabolism which helps the body to counteract the stressors (long-term) primarily by elevating glucose levels in the blood. These hormones are also called hyperglycemic hormones as their triggers the breaking down of fats and proteins into glucose.
  3. Sex hormones (androgens) – produced by the adrenal cortex throughout the life in relatively small amounts.  Hypersecretion of the sex hormones leads to masculinization regardless of the sex. Dramatic results are noted in females as they grow beard, a masculine body pattern of hair distribution and other male attributes.


  • Inherited as an autosomal recessive trait
  • People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.


In congenital adrenal hyperplasia (CAH), the affected individuals lack the enzyme needed by the adrenal glands to form and produce the other two hormones – cortisol and aldosterone. Absence of these hormones results to the increase production of the third hormone produced by the adrenal cortex which is the SEX HORMONES or the ANDROGENS. This causes males characteristics to early in childhood instead of normally appearing during the puberty period.  In females, male characteristics appear inappropriately as early as the fetal life.

Daisy Jane Antipuesto RN MN

Currently a Nursing Local Board Examination Reviewer. Subjects handled are Pediatric, Obstetric and Psychiatric Nursing. Previous work experiences include: Clinical instructor/lecturer, clinical coordinator (Level II), caregiver instructor/lecturer, NC2 examination reviewer and staff/clinic nurse. Areas of specialization: Emergency room, Orthopedic Ward and Delivery Room. Also an IELTS passer.

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