Congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (kənˈjenɪtəl əˈdriːnəl haɪpərˈpleɪziə) is a group of inherited genetic disorders that affect the adrenal glands. The term "congenital" refers to the condition being present at birth, "adrenal" pertains to the adrenal glands, and "hyperplasia" means enlargement or overgrowth.

Etymology

The term "congenital adrenal hyperplasia" is derived from the Latin congenitus meaning "born with", the Greek adrenes meaning "glands near the kidneys", and hyperplasia from the Greek hyper meaning "over" and plasis meaning "formation".

Overview

Congenital adrenal hyperplasia is caused by mutations in genes that encode enzymes involved in the production of cortisol and aldosterone in the adrenal glands. The most common form is due to 21-hydroxylase deficiency. This results in a decrease in the production of cortisol and often aldosterone, with an overproduction of androgens.

Symptoms

Symptoms of congenital adrenal hyperplasia can vary greatly depending on the type and severity of the enzyme deficiency. They may include rapid growth in childhood, early onset of puberty, excessive facial hair, and in severe cases, ambiguous genitalia in newborn females.

Diagnosis

Diagnosis of congenital adrenal hyperplasia is typically made through a series of blood and urine tests to measure hormone levels. Genetic testing can also be used to confirm the diagnosis and identify the specific enzyme deficiency.

Treatment

Treatment for congenital adrenal hyperplasia typically involves hormone replacement therapy to replace the deficient hormones. In some cases, surgery may be required to correct ambiguous genitalia in females.

Related Terms

• 21-hydroxylase
• Cortisol
• Aldosterone
• Androgen
• Adrenal glands
• Hormone replacement therapy

External links

• Medical encyclopedia article on Congenital adrenal hyperplasia
• Wikipedia's article - Congenital adrenal hyperplasia

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