Adrenal hyperplasia
Adrenal Hyperplasia is a group of inherited disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. Adrenal hyperplasia can result in endocrine disturbances such as Cushing's syndrome, hyperaldosteronism, and virilizing adrenal tumor.
Causes[edit | edit source]
Adrenal hyperplasia is usually caused by an inherited disorder. The most common form is congenital adrenal hyperplasia (CAH), which is due to a deficiency of the enzyme 21-hydroxylase. This enzyme deficiency leads to an overproduction of androgens, male sex hormones.
Symptoms[edit | edit source]
Symptoms of adrenal hyperplasia can vary widely, depending on the specific enzyme deficiency. Common symptoms include rapid growth in childhood, early puberty, acne, and fertility problems. In severe cases, adrenal crisis can occur, which is a life-threatening condition that requires immediate medical attention.
Diagnosis[edit | edit source]
Diagnosis of adrenal hyperplasia is based on a physical examination, medical history, and laboratory tests. These tests may include blood and urine tests to measure hormone levels, and genetic testing to identify the specific enzyme deficiency.
Treatment[edit | edit source]
Treatment for adrenal hyperplasia typically involves hormone replacement therapy to replace the deficient hormones. In some cases, surgery may be required to remove adrenal tumors.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD