What is CAH?
CAH (Congenital Adrenal Hyperplasia) is a group of rare genetic disorders that affect the adrenal glands, which are responsible for producing hormones such as cortisol, aldosterone, and androgens. People with CAH are born with enzyme deficiencies that impair hormone production, most commonly due to 21-hydroxylase deficiency.
Types of CAH
There are two main types:
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Classic CAH: More severe and typically detected at birth through newborn screening. It may cause salt-wasting, dehydration, or ambiguous genitalia in females.
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Non-classic CAH: A milder, late-onset form that may appear in childhood or adulthood, often with symptoms like irregular menstruation or early puberty.
Common Symptoms of CAH
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Low cortisol levels
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Electrolyte imbalances (especially sodium and potassium)
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Rapid growth in childhood but shorter adult height
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Excess androgen production, leading to hirsutism or acne
How is CAH Diagnosed?
CAH is usually diagnosed through newborn screening, hormone blood tests, and genetic testing. Early diagnosis is vital for managing hormone imbalances and avoiding life-threatening complications.
Treatment Options for CAH
Treatment typically involves lifelong hormone replacement therapy, including glucocorticoids and mineralocorticoids. Patients may also need stress dosing during illness or surgery to avoid adrenal crisis. Regular endocrinology follow-ups are essential.
For more information, visit Mayo Clinic’s CAH Resource.
Living with CAH
While CAH is a lifelong condition, most individuals can lead healthy lives with proper treatment. Education, psychological support, and a multidisciplinary care team help ensure better outcomes.
Image Alt Text Example: Child receiving care for CAH in a pediatric endocrinology clinic.
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