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A genetic variations that affect the enzymes allowing the adrenal glands to produce specific hormones regulating body functions. People with CAH do not consistently produce the required amounts of cortisol (stress/sickness response), aldosterone (potassium/sodium regulation), or both, and may naturally produce higher-than-typical levels of androgens like testosterone to compensate.

Classic CAH is characterized by more pronounced lower levels of cortisol and/or aldosterone production and is likely to be noticed at birth or soon after.

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