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Causes
By Mayo Clinic staff
Congenital adrenal hyperplasia is a condition that affects your adrenal glands, a pair of walnut-sized organs located above your kidneys.
Inherited defect affects cortisol production
The cause of congenital adrenal hyperplasia is an inherited genetic defect that results in decreased formation of one of the many enzymes that are used in the adrenal glands' production of cortisol. The enzyme most commonly deficient in congenital adrenal hyperplasia is 21-hydroxylase. Congenital adrenal hyperplasia may sometimes be called 21-hydroxylase deficiency. The severity of congenital adrenal hyperplasia is influenced by the degree of enzyme deficiency.
When signs and symptoms arise, they're most often associated with declines in the manufacture of cortisol, which plays an important role in regulating your blood pressure, maintaining blood sugar and energy levels, and protecting your body against stress.
A child with congenital adrenal hyperplasia may also experience:
- A decline in the adrenal glands' production of aldosterone. This can lead to low blood pressure, lower sodium level and higher potassium level. Sodium and potassium normally work together to help maintain the right balance of fluids in your body, transmit nerve impulses, and contract and relax your muscles.
- Excess production of the male sex hormones (androgens such as testosterone). This can result in shortened stature, early puberty in boys, abnormal genital development in girls and severe acne. Signs and symptoms may vary, depending on which specific gene is defective.
The condition is passed along in an inheritance pattern called autosomal recessive. Children who have the disorder have two parents who either have the condition themselves or who are both carriers of the genetic mutation that causes the condition.
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