Congenital Adrenal Hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, leading to an imbalance in the production of certain hormones.
Key points:
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Types: Classic CAH is severe and can result in a life-threatening condition in newborns if not diagnosed and treated promptly. Non-Classic CAH is milder with later-onset symptoms presenting in childhood or adolescence.
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Symptoms: Common symptoms include: ambiguous genitalia in females (in severe cases), excessive hair growth (hirsutism), irregular menstrual periods, rapid growth in childhood, salt-wasting and dehydration (in severe cases).
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Diagnosis: Newborns are often screened for CAH as part of routine newborn screening. Diagnosis involves measuring hormone levels in blood and urine and genetic testing to identify the specific enzyme deficiency.
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Treatment: Treatment aims to replace the deficient hormones and manage symptoms. It may include corticosteroid medications to replace cortisol, or ineralocorticoid medications to replace aldosterone.
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Management: Lifelong treatment is typically required. Psychosocial support may be helpful.
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Genetic Counseling: Genetic counseling may be recommended for families with a history of CAH to assess the risk of passing the condition to future generations.