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Congenital Adrenal Hyperplasia

Meaning

Congenital Adrenal Hyperplasia (CAH) describes a group of inherited, autosomal recessive disorders that cause defects in the enzymatic pathways of adrenal steroidogenesis, meaning the adrenal glands cannot produce adequate levels of essential hormones. The most common form involves a deficiency of the 21-hydroxylase enzyme, leading to impaired synthesis of cortisol and aldosterone. Clinically, this impairment results in a critical deficiency of glucocorticoids and mineralocorticoids, coupled with an excessive production of adrenal androgens. Timely diagnosis and lifelong hormonal replacement therapy are essential for managing this condition and preventing adrenal crisis.